13-23915164-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915164
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915164
    reference: chr 13
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.601C>T
  hgvsp: ENSP00000385844.1:p.His201Tyr
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2851C>T
  hgvsp: ENSP00000371735.3:p.His951Tyr
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11541C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+420C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2851C>T
  hgvsp: ENSP00000371729.3:p.His951Tyr
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4640
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52112
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His951Tyr
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

13-23915164-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915164
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915164
    reference: chr 13
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+420C>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.601C>G
  hgvsp: ENSP00000385844.1:p.His201Asp
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2851C>G
  hgvsp: ENSP00000371729.3:p.His951Asp
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2851C>G
  hgvsp: ENSP00000371735.3:p.His951Asp
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11541C>G
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38958
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52112
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 7.75e1
  variant carriers: 0
hgvs: p.His951Asp
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

13-23915168-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915168
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915168
    reference: chr 13
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.597C>T
  hgvsp: ENST00000402364.1:c.597C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2847C>T
  hgvsp: ENST00000382298.3:c.2847C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11545C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2847C>T
  hgvsp: ENST00000382292.3:c.2847C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+416C>T
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52110
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 509
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4645
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val949Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/13-23915176-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915176
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915176
    reference: chr 13
allele count: 2
allele frequency: 1.648043772042586e-5
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+408T>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11553T>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.589T>G
  hgvsp: ENSP00000385844.1:p.Cys197Gly
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2839T>G
  hgvsp: ENSP00000371729.3:p.Cys947Gly
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2839T>G
  hgvsp: ENSP00000371735.3:p.Cys947Gly
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38956
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52129
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys947Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/13-23915179-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915179
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915179
    reference: chr 13
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11556G>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+405G>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2836G>T
  hgvsp: ENSP00000371729.3:p.Gly946Cys
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.586G>T
  hgvsp: ENSP00000385844.1:p.Gly196Cys
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2836G>T
  hgvsp: ENSP00000371735.3:p.Gly946Cys
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16931
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly946Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

13-23915189-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915189
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915189
    reference: chr 13
allele count: 8
allele frequency: 6.592609684543627e-5
allele num: 121348
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2826A>C
  hgvsp: ENST00000382298.3:c.2826A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11566A>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2826A>C
  hgvsp: ENST00000382292.3:c.2826A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+395A>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.576A>C
  hgvsp: ENST00000402364.1:c.576A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16942
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4646
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr942Thr
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ

13-23915190-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915190
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915190
    reference: chr 13
allele count: 4
allele frequency: 3.296359171295305e-5
allele num: 121346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+394C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2825C>T
  hgvsp: ENSP00000371729.3:p.Thr942Ile
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11567C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2825C>T
  hgvsp: ENSP00000371735.3:p.Thr942Ile
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.575C>T
  hgvsp: ENSP00000385844.1:p.Thr192Ile
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 38924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52102
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr942Ile
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

13-23915196-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915196
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915196
    reference: chr 13
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+388C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.569C>T
  hgvsp: ENSP00000385844.1:p.Ser190Phe
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2819C>T
  hgvsp: ENSP00000371729.3:p.Ser940Phe
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2819C>T
  hgvsp: ENSP00000371735.3:p.Ser940Phe
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11573C>T
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser940Phe
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD

13-23915199-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915199
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915199
    reference: chr 13
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11576C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+385C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2816C>T
  hgvsp: ENSP00000371735.3:p.Ser939Phe
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.566C>T
  hgvsp: ENSP00000385844.1:p.Ser189Phe
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2816C>T
  hgvsp: ENSP00000371729.3:p.Ser939Phe
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38891
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52066
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser939Phe
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/13-23915205-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915205
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915205
    reference: chr 13
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11582G>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2810G>T
  hgvsp: ENSP00000371729.3:p.Gly937Val
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+379G>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.560G>T
  hgvsp: ENSP00000385844.1:p.Gly187Val
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2810G>T
  hgvsp: ENSP00000371735.3:p.Gly937Val
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38868
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3089
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly937Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

13-23915209-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915209
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915209
    reference: chr 13
allele count: 8
allele frequency: 6.594892255947769e-5
allele num: 121306
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.556C>A
  hgvsp: ENSP00000385844.1:p.Gln186Lys
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+375C>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2806C>A
  hgvsp: ENSP00000371729.3:p.Gln936Lys
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11586C>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2806C>A
  hgvsp: ENSP00000371735.3:p.Gln936Lys
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4641
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52049
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln936Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

13-23915209-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915209
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915209
    reference: chr 13
allele count: 1
allele frequency: 8.243615319934711e-6
allele num: 121306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2806C>T
  hgvsp: ENSP00000371729.3:p.Gln936Ter
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2806C>T
  hgvsp: ENSP00000371735.3:p.Gln936Ter
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11586C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.556C>T
  hgvsp: ENSP00000385844.1:p.Gln186Ter
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+375C>T
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3088
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38848
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52049
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln936Ter
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

13-23915214-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915214
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915214
    reference: chr 13
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2801C>T
  hgvsp: ENSP00000371729.3:p.Ser934Phe
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+370C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11591C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2801C>T
  hgvsp: ENSP00000371735.3:p.Ser934Phe
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.551C>T
  hgvsp: ENSP00000385844.1:p.Ser184Phe
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38814
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52020
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser934Phe
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

13-23915216-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915216
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915216
    reference: chr 13
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+368T>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11593T>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2799T>A
  hgvsp: ENST00000382292.3:c.2799T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2799T>A
  hgvsp: ENST00000382298.3:c.2799T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.549T>A
  hgvsp: ENST00000402364.1:c.549T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16943
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51988
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser933Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum

13-23915224-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915224
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915224
    reference: chr 13
allele count: 11
allele frequency: 9.074410163339382e-5
allele num: 121220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+360A>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2791A>T
  hgvsp: ENSP00000371729.3:p.Asn931Tyr
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.541A>T
  hgvsp: ENSP00000385844.1:p.Asn181Tyr
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2791A>T
  hgvsp: ENSP00000371735.3:p.Asn931Tyr
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11601A>T
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38753
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16915
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4623
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn931Tyr
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/13-23915229-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915229
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915229
    reference: chr 13
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2786G>T
  hgvsp: ENSP00000371729.3:p.Arg929Leu
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.536G>T
  hgvsp: ENSP00000385844.1:p.Arg179Leu
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2786G>T
  hgvsp: ENSP00000371735.3:p.Arg929Leu
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11606G>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+355G>T
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38695
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg929Leu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD

13-23915229-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915229
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915229
    reference: chr 13
allele count: 5
allele frequency: 4.126297720633139e-5
allele num: 121174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.536G>A
  hgvsp: ENSP00000385844.1:p.Arg179His
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+355G>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2786G>A
  hgvsp: ENSP00000371729.3:p.Arg929His
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11606G>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2786G>A
  hgvsp: ENSP00000371735.3:p.Arg929His
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38695
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg929His
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

13-23915230-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915230
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915230
    reference: chr 13
allele count: 3
allele frequency: 2.475860361475613e-5
allele num: 121170
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2785C>T
  hgvsp: ENSP00000371729.3:p.Arg929Cys
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11607C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.535C>T
  hgvsp: ENSP00000385844.1:p.Arg179Cys
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+354C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2785C>T
  hgvsp: ENSP00000371735.3:p.Arg929Cys
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51832
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg929Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

13-23915230-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915230
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915230
    reference: chr 13
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+354C>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2785C>A
  hgvsp: ENSP00000371729.3:p.Arg929Ser
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.535C>A
  hgvsp: ENSP00000385844.1:p.Arg179Ser
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11607C>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2785C>A
  hgvsp: ENSP00000371735.3:p.Arg929Ser
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38679
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4609
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg929Ser
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum

13-23915234-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915234
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915234
    reference: chr 13
allele count: 1
allele frequency: 8.254911672445104e-6
allele num: 121140
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+350C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2781C>T
  hgvsp: ENST00000382298.3:c.2781C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.531C>T
  hgvsp: ENST00000402364.1:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11611C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2781C>T
  hgvsp: ENST00000382292.3:c.2781C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16898
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51816
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4610
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe927Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

13-23915239-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915239
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915239
    reference: chr 13
allele count: 26
allele frequency: 2.14712780365342e-4
allele num: 121092
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+345A>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2776A>G
  hgvsp: ENSP00000371735.3:p.Ile926Val
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2776A>G
  hgvsp: ENSP00000371729.3:p.Ile926Val
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.526A>G
  hgvsp: ENSP00000385844.1:p.Ile176Val
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11616A>G
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16859
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 9.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51632
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile926Val
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD

13-23915251-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915251
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915251
    reference: chr 13
allele count: 1
allele frequency: 8.261458643138033e-6
allele num: 121044
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11628C>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2764C>G
  hgvsp: ENSP00000371735.3:p.Gln922Glu
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+333C>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2764C>G
  hgvsp: ENSP00000371729.3:p.Gln922Glu
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.514C>G
  hgvsp: ENSP00000385844.1:p.Gln172Glu
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16862
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3075
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1174
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4584
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln922Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

13-23915254-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915254
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915254
    reference: chr 13
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2761A>C
  hgvsp: ENSP00000371735.3:p.Ile921Leu
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2761A>C
  hgvsp: ENSP00000371729.3:p.Ile921Leu
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11631A>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+330A>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.511A>C
  hgvsp: ENSP00000385844.1:p.Ile171Leu
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51655
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ile921Leu
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

13-23915256-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915256
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915256
    reference: chr 13
allele count: 2
allele frequency: 1.652510162937502e-5
allele num: 121028
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+328T>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.509T>C
  hgvsp: ENSP00000385844.1:p.Ile170Thr
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2759T>C
  hgvsp: ENSP00000371729.3:p.Ile920Thr
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11633T>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2759T>C
  hgvsp: ENSP00000371735.3:p.Ile920Thr
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16861
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4585
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile920Thr
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum

13-23915265-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915265
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915265
    reference: chr 13
allele count: 18
allele frequency: 1.487701666225866e-4
allele num: 120992
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.500A>T
  hgvsp: ENSP00000385844.1:p.Glu167Val
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11642A>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2750A>T
  hgvsp: ENSP00000371735.3:p.Glu917Val
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2750A>T
  hgvsp: ENSP00000371729.3:p.Glu917Val
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+319A>T
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3074
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51595
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 707
  bin: 9.75e1
  variant carriers: 18
hgvs: p.Glu917Val
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

13-23915268-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915268
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915268
    reference: chr 13
allele count: 1
allele frequency: 8.266102367411717e-6
allele num: 120976
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+316A>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.497A>C
  hgvsp: ENSP00000385844.1:p.Lys166Thr
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11645A>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2747A>C
  hgvsp: ENSP00000371729.3:p.Lys916Thr
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2747A>C
  hgvsp: ENSP00000371735.3:p.Lys916Thr
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16877
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys916Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff

13-23915276-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915276
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915276
    reference: chr 13
allele count: 1
allele frequency: 8.267605866693123e-6
allele num: 120954
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.489C>T
  hgvsp: ENST00000402364.1:c.489C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2739C>T
  hgvsp: ENST00000382292.3:c.2739C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2739C>T
  hgvsp: ENST00000382298.3:c.2739C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11653C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+308C>T
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 734
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4582
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser913Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

13-23915281-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915281
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915281
    reference: chr 13
allele count: 1
allele frequency: 8.268289456277286e-6
allele num: 120944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+303G>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.484G>A
  hgvsp: ENSP00000385844.1:p.Asp162Asn
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2734G>A
  hgvsp: ENSP00000371729.3:p.Asp912Asn
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2734G>A
  hgvsp: ENSP00000371735.3:p.Asp912Asn
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11658G>A
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51657
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp912Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

13-23915282-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915282
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915282
    reference: chr 13
allele count: 3
allele frequency: 2.480240748702007e-5
allele num: 120956
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.483C>T
  hgvsp: ENST00000402364.1:c.483C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2733C>T
  hgvsp: ENST00000382292.3:c.2733C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+302C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2733C>T
  hgvsp: ENST00000382298.3:c.2733C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11659C>T
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3086
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr911Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

13-23915292-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915292
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915292
    reference: chr 13
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+292C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11669C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2723C>T
  hgvsp: ENSP00000371729.3:p.Ala908Val
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2723C>T
  hgvsp: ENSP00000371735.3:p.Ala908Val
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.473C>T
  hgvsp: ENSP00000385844.1:p.Ala158Val
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1186
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4601
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala908Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

13-23915294-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915294
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915294
    reference: chr 13
allele count: 96
allele frequency: 7.935851864098537e-4
allele num: 120970
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2721G>A
  hgvsp: ENST00000382292.3:c.2721G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2721G>A
  hgvsp: ENST00000382298.3:c.2721G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+290G>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.471G>A
  hgvsp: ENST00000402364.1:c.471G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11671G>A
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16882
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51619
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 9.75e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 4593
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu907Leu
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

13-23915297-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915297
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915297
    reference: chr 13
allele count: 1
allele frequency: 8.266649031148734e-6
allele num: 120968
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.468C>G
  hgvsp: ENSP00000385844.1:p.Phe156Leu
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2718C>G
  hgvsp: ENSP00000371729.3:p.Phe906Leu
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+287C>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2718C>G
  hgvsp: ENSP00000371735.3:p.Phe906Leu
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11674C>G
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 689
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4607
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Phe906Leu
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

13-23915299-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915299
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915299
    reference: chr 13
allele count: 4
allele frequency: 3.306714283352347e-5
allele num: 120966
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2716T>C
  hgvsp: ENSP00000371735.3:p.Phe906Leu
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11676T>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.466T>C
  hgvsp: ENSP00000385844.1:p.Phe156Leu
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2716T>C
  hgvsp: ENSP00000371729.3:p.Phe906Leu
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+285T>C
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16940
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4608
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Phe906Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum

13-23915304-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915304
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915304
    reference: chr 13
allele count: 1
allele frequency: 8.266512358435975e-6
allele num: 120970
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2711G>A
  hgvsp: ENSP00000371735.3:p.Arg904Lys
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11681G>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2711G>A
  hgvsp: ENSP00000371729.3:p.Arg904Lys
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+280G>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.461G>A
  hgvsp: ENSP00000385844.1:p.Arg154Lys
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4610
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg904Lys
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

13-23915310-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915310
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915310
    reference: chr 13
allele count: 1
allele frequency: 8.266785708380868e-6
allele num: 120966
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11687C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.455C>T
  hgvsp: ENSP00000385844.1:p.Ala152Val
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2705C>T
  hgvsp: ENSP00000371735.3:p.Ala902Val
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2705C>T
  hgvsp: ENSP00000371729.3:p.Ala902Val
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+274C>T
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16952
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38514
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala902Val
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

13-23915313-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915313
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915313
    reference: chr 13
allele count: 1
allele frequency: 8.266102367411717e-6
allele num: 120976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2702A>T
  hgvsp: ENSP00000371729.3:p.Asp901Val
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2702A>T
  hgvsp: ENSP00000371735.3:p.Asp901Val
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11690A>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+271A>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.452A>T
  hgvsp: ENSP00000385844.1:p.Asp151Val
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38535
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51739
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp901Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

13-23915320-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915320
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915320
    reference: chr 13
allele count: 2
allele frequency: 1.653220473482343e-5
allele num: 120976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11697C>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2695C>A
  hgvsp: ENSP00000371735.3:p.His899Asn
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+264C>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2695C>A
  hgvsp: ENSP00000371729.3:p.His899Asn
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.445C>A
  hgvsp: ENSP00000385844.1:p.His149Asn
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4604
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
hgvs: p.His899Asn
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

13-23915329-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915329
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915329
    reference: chr 13
allele count: 4
allele frequency: 3.305785123966942e-5
allele num: 121000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11706C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2686C>T
  hgvsp: ENSP00000371735.3:p.Leu896Phe
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+255C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.436C>T
  hgvsp: ENSP00000385844.1:p.Leu146Phe
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2686C>T
  hgvsp: ENSP00000371729.3:p.Leu896Phe
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3095
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4607
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51787
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu896Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff

13-23915333-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915333
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915333
    reference: chr 13
allele count: 3
allele frequency: 2.479133955871415e-5
allele num: 121010
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11710G>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2682G>A
  hgvsp: ENST00000382292.3:c.2682G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2682G>A
  hgvsp: ENST00000382298.3:c.2682G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+251G>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.432G>A
  hgvsp: ENST00000402364.1:c.432G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16973
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser894Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

13-23915334-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915334
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915334
    reference: chr 13
allele count: 19
allele frequency: 1.569858712715856e-4
allele num: 121030
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.431C>T
  hgvsp: ENSP00000385844.1:p.Ser144Leu
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11711C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2681C>T
  hgvsp: ENSP00000371735.3:p.Ser894Leu
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2681C>T
  hgvsp: ENSP00000371729.3:p.Ser894Leu
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+250C>T
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 9.75e1
  variant carriers: 19
genotype quality: GenotypeQuality
  all individuals: 1190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51773
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser894Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

13-23915346-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915346
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915346
    reference: chr 13
allele count: 9
allele frequency: 7.435804223536799e-5
allele num: 121036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11723A>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+238A>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2669A>G
  hgvsp: ENSP00000371729.3:p.Asn890Ser
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2669A>G
  hgvsp: ENSP00000371735.3:p.Asn890Ser
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.419A>G
  hgvsp: ENSP00000385844.1:p.Asn140Ser
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38588
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51832
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn890Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

13-23915347-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915347
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915347
    reference: chr 13
allele count: 2
allele frequency: 1.652319029758266e-5
allele num: 121042
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2668A>G
  hgvsp: ENSP00000371735.3:p.Asn890Asp
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.418A>G
  hgvsp: ENSP00000385844.1:p.Asn140Asp
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11724A>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2668A>G
  hgvsp: ENSP00000371729.3:p.Asn890Asp
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+237A>G
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51854
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn890Asp
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/13-23915357-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915357
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915357
    reference: chr 13
allele count: 3
allele frequency: 2.4786833234186e-5
allele num: 121032
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2658G>T
  hgvsp: ENSP00000371729.3:p.Gln886His
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.408G>T
  hgvsp: ENSP00000385844.1:p.Gln136His
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2658G>T
  hgvsp: ENSP00000371735.3:p.Gln886His
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+227G>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11734G>T
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4615
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln886His
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

13-23915359-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915359
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915359
    reference: chr 13
allele count: 1
allele frequency: 8.26255081468751e-6
allele num: 121028
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11736C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.406C>T
  hgvsp: ENSP00000385844.1:p.Gln136Ter
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2656C>T
  hgvsp: ENSP00000371735.3:p.Gln886Ter
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2656C>T
  hgvsp: ENSP00000371729.3:p.Gln886Ter
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+225C>T
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16960
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln886Ter
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP

13-23915362-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915362
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915362
    reference: chr 13
allele count: 2
allele frequency: 1.652209830648492e-5
allele num: 121050
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2653T>C
  hgvsp: ENST00000382292.3:c.2653T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+222T>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.403T>C
  hgvsp: ENST00000402364.1:c.403T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2653T>C
  hgvsp: ENST00000382298.3:c.2653T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11739T>C
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4619
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51882
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu885Leu
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
reference allele: A
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

13-23915363-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915363
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915363
    reference: chr 13
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11740A>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.402A>G
  hgvsp: ENST00000402364.1:c.402A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2652A>G
  hgvsp: ENST00000382298.3:c.2652A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2652A>G
  hgvsp: ENST00000382292.3:c.2652A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+221A>G
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16955
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38647
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51871
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 980
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro884Pro
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

13-23915367-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915367
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915367
    reference: chr 13
allele count: 5
allele frequency: 4.130592822681911e-5
allele num: 121048
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+217T>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.398T>C
  hgvsp: ENSP00000385844.1:p.Met133Thr
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2648T>C
  hgvsp: ENSP00000371735.3:p.Met883Thr
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11744T>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2648T>C
  hgvsp: ENSP00000371729.3:p.Met883Thr
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38639
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 696
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met883Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

13-23915372-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915372
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915372
    reference: chr 13
allele count: 26
allele frequency: 2.147553441041398e-4
allele num: 121068
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+212G>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11749G>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.393G>C
  hgvsp: ENSP00000385844.1:p.Glu131Asp
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2643G>C
  hgvsp: ENSP00000371735.3:p.Glu881Asp
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2643G>C
  hgvsp: ENSP00000371729.3:p.Glu881Asp
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 38628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51857
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4616
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Glu881Asp
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

13-23915382-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915382
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915382
    reference: chr 13
allele count: 1
allele frequency: 8.258456659619451e-6
allele num: 121088
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11759A>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.383A>C
  hgvsp: ENSP00000385844.1:p.Gln128Pro
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+202A>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2633A>C
  hgvsp: ENSP00000371729.3:p.Gln878Pro
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2633A>C
  hgvsp: ENSP00000371735.3:p.Gln878Pro
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1196
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 979
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gln878Pro
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

13-23915394-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915394
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915394
    reference: chr 13
allele count: 1
allele frequency: 8.260366760284156e-6
allele num: 121060
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11771G>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2621G>A
  hgvsp: ENSP00000371729.3:p.Ser874Asn
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.371G>A
  hgvsp: ENSP00000385844.1:p.Ser124Asn
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2621G>A
  hgvsp: ENSP00000371735.3:p.Ser874Asn
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+190G>A
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3112
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51847
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser874Asn
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS

13-23915395-TTGGTAA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915395
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915389
    reference: chr 13
allele count: 9
allele frequency: 7.435312778824229e-5
allele num: 121044
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2614_2619delTTACCA
  hgvsp: ENSP00000371735.3:p.Leu872_Pro873del
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+183_2129+188delTTACCA
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.364_369delTTACCA
  hgvsp: ENSP00000385844.1:p.Leu122_Pro123del
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2614_2619delTTACCA
  hgvsp: ENSP00000371729.3:p.Leu872_Pro873del
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16947
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38592
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4611
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu872_Pro873del
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: TTGGTAA
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

13-23915400-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915400
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915400
    reference: chr 13
allele count: 1
allele frequency: 8.264599414866361e-6
allele num: 120998
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2615T>C
  hgvsp: ENSP00000371729.3:p.Leu872Ser
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2615T>C
  hgvsp: ENSP00000371735.3:p.Leu872Ser
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.365T>C
  hgvsp: ENSP00000385844.1:p.Leu122Ser
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11777T>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+184T>C
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16922
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu872Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD

13-23915404-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915404
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915404
    reference: chr 13
allele count: 1
allele frequency: 8.265965712774223e-6
allele num: 120978
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+180C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11781C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.361C>T
  hgvsp: ENSP00000385844.1:p.Pro121Ser
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2611C>T
  hgvsp: ENSP00000371735.3:p.Pro871Ser
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2611C>T
  hgvsp: ENSP00000371729.3:p.Pro871Ser
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16913
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4603
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro871Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

13-23915413-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915413
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915413
    reference: chr 13
allele count: 16
allele frequency: 1.323013825494476e-4
allele num: 120936
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.352A>G
  hgvsp: ENSP00000385844.1:p.Ile118Val
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+171A>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2602A>G
  hgvsp: ENSP00000371729.3:p.Ile868Val
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11790A>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2602A>G
  hgvsp: ENSP00000371735.3:p.Ile868Val
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile868Val
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

13-23915416-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915416
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915416
    reference: chr 13
allele count: 1
allele frequency: 8.270477702792114e-6
allele num: 120912
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2599T>C
  hgvsp: ENSP00000371729.3:p.Tyr867His
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+168T>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11793T>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2599T>C
  hgvsp: ENSP00000371735.3:p.Tyr867His
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.349T>C
  hgvsp: ENSP00000385844.1:p.Tyr117His
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1191
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Tyr867His
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

13-23915418-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915418
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915418
    reference: chr 13
allele count: 2
allele frequency: 1.654122901331569e-5
allele num: 120910
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.347A>G
  hgvsp: ENSP00000385844.1:p.Lys116Arg
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11795A>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+166A>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2597A>G
  hgvsp: ENSP00000371729.3:p.Lys866Arg
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2597A>G
  hgvsp: ENSP00000371735.3:p.Lys866Arg
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16860
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38380
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys866Arg
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD

13-23915429-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915429
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915429
    reference: chr 13
allele count: 1
allele frequency: 8.274583788435442e-6
allele num: 120852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.336G>A
  hgvsp: ENST00000402364.1:c.336G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2586G>A
  hgvsp: ENST00000382292.3:c.2586G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+155G>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11806G>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2586G>A
  hgvsp: ENST00000382298.3:c.2586G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50895
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4538
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro862Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

13-23915430-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915430
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915430
    reference: chr 13
allele count: 4
allele frequency: 3.309559663086826e-5
allele num: 120862
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2585C>T
  hgvsp: ENSP00000371735.3:p.Pro862Leu
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.335C>T
  hgvsp: ENSP00000385844.1:p.Pro112Leu
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+154C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2585C>T
  hgvsp: ENSP00000371729.3:p.Pro862Leu
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11807C>T
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4545
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro862Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

13-23915434-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915434
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915434
    reference: chr 13
allele count: 2
allele frequency: 1.654807214959457e-5
allele num: 120860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2581C>T
  hgvsp: ENSP00000371729.3:p.His861Tyr
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2581C>T
  hgvsp: ENSP00000371735.3:p.His861Tyr
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.331C>T
  hgvsp: ENSP00000385844.1:p.His111Tyr
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+150C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11811C>T
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4543
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His861Tyr
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

13-23915435-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915435
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915435
    reference: chr 13
allele count: 26
allele frequency: 2.151284979066342e-4
allele num: 120858
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2580A>G
  hgvsp: ENST00000382298.3:c.2580A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2580A>G
  hgvsp: ENST00000382292.3:c.2580A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.330A>G
  hgvsp: ENST00000402364.1:c.330A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11812A>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+149A>G
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16714
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4541
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gln860Gln
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

13-23915440-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915440
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915440
    reference: chr 13
allele count: 1
allele frequency: 8.276364358664525e-6
allele num: 120826
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2575A>G
  hgvsp: ENSP00000371735.3:p.Ile859Val
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2575A>G
  hgvsp: ENSP00000371729.3:p.Ile859Val
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.325A>G
  hgvsp: ENSP00000385844.1:p.Ile109Val
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11817A>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+144A>G
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16645
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4520
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile859Val
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/13-23915443-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915443
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915443
    reference: chr 13
allele count: 2
allele frequency: 1.655437283758505e-5
allele num: 120814
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2572T>G
  hgvsp: ENSP00000371729.3:p.Ser858Ala
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+141T>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2572T>G
  hgvsp: ENSP00000371735.3:p.Ser858Ala
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11820T>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.322T>G
  hgvsp: ENSP00000385844.1:p.Ser108Ala
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50199
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser858Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

13-23915451-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915451
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915451
    reference: chr 13
allele count: 2
allele frequency: 1.655656550605143e-5
allele num: 120798
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.314T>C
  hgvsp: ENSP00000385844.1:p.Leu105Ser
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2564T>C
  hgvsp: ENSP00000371735.3:p.Leu855Ser
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2564T>C
  hgvsp: ENSP00000371729.3:p.Leu855Ser
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11828T>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+133T>C
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16571
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 970
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu855Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

13-23915462-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915462
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915462
    reference: chr 13
allele count: 1
allele frequency: 8.281436332317477e-6
allele num: 120752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.303C>T
  hgvsp: ENST00000402364.1:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11839C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2553C>T
  hgvsp: ENST00000382298.3:c.2553C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2553C>T
  hgvsp: ENST00000382292.3:c.2553C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+122C>T
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37176
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49490
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val851Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/13-23915464-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915464
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915464
    reference: chr 13
allele count: 1
allele frequency: 8.289262089888757e-6
allele num: 120638
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2551G>T
  hgvsp: ENSP00000371729.3:p.Val851Phe
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+120G>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.301G>T
  hgvsp: ENSP00000385844.1:p.Val101Phe
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11841G>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2551G>T
  hgvsp: ENSP00000371735.3:p.Val851Phe
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 692
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val851Phe
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

13-23915467-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915467
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915467
    reference: chr 13
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11844T>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2548T>C
  hgvsp: ENSP00000371735.3:p.Phe850Leu
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.298T>C
  hgvsp: ENSP00000385844.1:p.Phe100Leu
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+117T>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2548T>C
  hgvsp: ENSP00000371729.3:p.Phe850Leu
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 976
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 693
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe850Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

13-23915481-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915481
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915481
    reference: chr 13
allele count: 3
allele frequency: 2.483937206067431e-5
allele num: 120776
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+103A>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11858A>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.284A>G
  hgvsp: ENSP00000385844.1:p.Gln95Arg
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2534A>G
  hgvsp: ENSP00000371729.3:p.Gln845Arg
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2534A>G
  hgvsp: ENSP00000371735.3:p.Gln845Arg
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln845Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD

13-23915483-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915483
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915483
    reference: chr 13
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.282A>G
  hgvsp: ENST00000402364.1:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2532A>G
  hgvsp: ENST00000382298.3:c.2532A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+101A>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2532A>G
  hgvsp: ENST00000382292.3:c.2532A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11860A>G
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val844Val
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

13-23915491-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915491
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915491
    reference: chr 13
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2524G>C
  hgvsp: ENSP00000371735.3:p.Asp842His
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2524G>C
  hgvsp: ENSP00000371729.3:p.Asp842His
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11868G>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.274G>C
  hgvsp: ENSP00000385844.1:p.Asp92His
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+93G>C
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16629
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 697
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp842His
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS

13-23915504-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915504
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915504
    reference: chr 13
allele count: 1
allele frequency: 8.274994621253496e-6
allele num: 120846
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.261A>G
  hgvsp: ENST00000402364.1:c.261A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11881A>G
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2511A>G
  hgvsp: ENST00000382298.3:c.2511A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2511A>G
  hgvsp: ENST00000382292.3:c.2511A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+80A>G
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37395
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16754
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49731
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro837Pro
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ

13-23915506-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915506
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915506
    reference: chr 13
allele count: 4
allele frequency: 3.309614429918914e-5
allele num: 120860
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+78C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2509C>T
  hgvsp: ENSP00000371735.3:p.Pro837Ser
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11883C>T
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.259C>T
  hgvsp: ENSP00000385844.1:p.Pro87Ser
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2509C>T
  hgvsp: ENSP00000371729.3:p.Pro837Ser
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 702
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 4753
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49893
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 346
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro837Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

13-23915510-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915510
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915510
    reference: chr 13
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+74G>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2505G>A
  hgvsp: ENST00000382298.3:c.2505G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2505G>A
  hgvsp: ENST00000382292.3:c.2505G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11887G>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.255G>A
  hgvsp: ENST00000402364.1:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1260
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gln835Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

13-23915518-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915518
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915518
    reference: chr 13
allele count: 24
allele frequency: 1.983667801765464e-4
allele num: 120988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11895G>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2497G>A
  hgvsp: ENSP00000371729.3:p.Glu833Lys
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.247G>A
  hgvsp: ENSP00000385844.1:p.Glu83Lys
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+66G>A
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2497G>A
  hgvsp: ENSP00000371735.3:p.Glu833Lys
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37667
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 50300
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1295
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 9.75e1
  variant carriers: 24
hgvs: p.Glu833Lys
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

13-23915521-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 23915521
    reference: chr 13
  end: Position
    type: ExactPosition
    position: 23915521
    reference: chr 13
allele count: 32
allele frequency: 2.643404705260375e-4
allele num: 121056
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000385844
  ensembl transcript: ENST00000402364
  gene symbol: SACS
  hgvsc: ENST00000402364.1:c.244T>C
  hgvsp: ENSP00000385844.1:p.Ser82Pro
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371735
  ensembl transcript: ENST00000382298
  gene symbol: SACS
  hgvsc: ENST00000382298.3:c.2494T>C
  hgvsp: ENSP00000371735.3:p.Ser832Pro
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000371729
  ensembl transcript: ENST00000382292
  gene symbol: SACS
  hgvsc: ENST00000382292.3:c.2494T>C
  hgvsp: ENSP00000371729.3:p.Ser832Pro
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000390925
  ensembl transcript: ENST00000423156
  gene symbol: SACS
  hgvsc: ENST00000423156.1:c.1058-11898T>C
  variant of: http://identifiers.org/hgnc/10519
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000151835
  ensembl protein: ENSP00000406565
  ensembl transcript: ENST00000455470
  gene symbol: SACS
  hgvsc: ENST00000455470.1:c.2129+63T>C
  variant of: http://identifiers.org/hgnc/10519
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 17078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37731
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50398
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser832Pro
num of homozygotes: 0
reference allele: A

GenotypeQuality
all individuals: 1
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.926411096127914e-4
allele num: 10382
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: 6612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.994e0

QD
type: SiteQuality
SIO_000300: 1.424e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.57e-1

DP
type: SiteQuality
SIO_000300: 1.484662e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.932e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1190
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4640
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66720
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.424e1

FS
type: SiteQuality
SIO_000300: 6.994e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.932e0

MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e0

DP
type: SiteQuality
SIO_000300: 1.484662e6

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 688
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.332e1

MQRankSum
type: SiteQuality
SIO_000300: -1.752e0

FS
type: SiteQuality
SIO_000300: 4.034e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.696e0

DP
type: SiteQuality
SIO_000300: 1.484535e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.987e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4644
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 8.25e1
variant carriers: 0

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

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.401e1

VQSLOD
type: SiteQuality
SIO_000300: 2.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.330000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.819e0

MQRankSum
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e0

DP
type: SiteQuality
SIO_000300: 1.484696e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.8e-2

GenotypeQuality
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 970
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52114
bin: 6.25e1
variant carriers: 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: 66720
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.03e-1

FS
type: SiteQuality
SIO_000300: 7.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.516e0

DP
type: SiteQuality
SIO_000300: 1.484702e6

QD
type: SiteQuality
SIO_000300: 1.383e1

MQ
type: SiteQuality
SIO_000300: 5.95e1

GenotypeQuality
all individuals: 693
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1191
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 969
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 8
allele frequency: 4.846722403974312e-4
allele num: 16506
num of homozygotes: 1

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.46e0

MQRankSum
type: SiteQuality
SIO_000300: 2.68e-1

DP
type: SiteQuality
SIO_000300: 1.48484e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

QD
type: SiteQuality
SIO_000300: 1.351e1

VQSLOD
type: SiteQuality
SIO_000300: 4.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.17e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 970
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 508
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
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: 11578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.995743022454058e-5
allele num: 66714
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 1.484993e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -6.016e0

QD
type: SiteQuality
SIO_000300: 1.077e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.56e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.42e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52108
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211680600993578e-4
allele num: 16506
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: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 9.31e0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.13e0

VQSLOD
type: SiteQuality
SIO_000300: -1.708e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.861e0

DP
type: SiteQuality
SIO_000300: 1.48466e6

QD
type: SiteQuality
SIO_000300: 1.344e1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 509
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GenotypeQuality
all individuals: 75
bin: 2.25e1
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: 11576
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
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: 10374
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 1.808e0

DP
type: SiteQuality
SIO_000300: 1.484512e6

MQ
type: SiteQuality
SIO_000300: 5.928e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 9.720000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 511
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.593e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.708e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.8e-1

DP
type: SiteQuality
SIO_000300: 1.484345e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.671e0

FS
type: SiteQuality
SIO_000300: 1.1057e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.15e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

VQSLOD
type: SiteQuality
SIO_000300: -1.581e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
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: 8
allele frequency: 7.710100231303007e-4
allele num: 10376
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.012e0

DP
type: SiteQuality
SIO_000300: 1.48487e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQ
type: SiteQuality
SIO_000300: 5.975e1

MQRankSum
type: SiteQuality
SIO_000300: -3.6e-1

QD
type: SiteQuality
SIO_000300: 1.368e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 1.48487e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e-1

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

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

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

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

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

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.483921e6

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

European (Finnish)
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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: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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QD
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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DP
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 51910
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

East Asian
type: Population
allele count: 11
allele frequency: 1.275510204081633e-3
allele num: 8624
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.957e1

DP
type: SiteQuality
SIO_000300: 1.483276e6

VQSLOD
type: SiteQuality
SIO_000300: 4.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -6.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.44e-1

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 504
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 971
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.669309611293753e-5
allele num: 10342
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.92e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

FS
type: SiteQuality
SIO_000300: 5.942e0

DP
type: SiteQuality
SIO_000300: 1.482324e6

QD
type: SiteQuality
SIO_000300: 1.417e1

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51840
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4611
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160362032954282e-4
allele num: 8618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.819725827975252e-4
allele num: 16486
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

FS
type: SiteQuality
SIO_000300: 5.942e0

VQSLOD
type: SiteQuality
SIO_000300: 7.92e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.37e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e-1

QD
type: SiteQuality
SIO_000300: 1.417e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

DP
type: SiteQuality
SIO_000300: 1.482324e6

GenotypeQuality
all individuals: 973
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 505
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4609
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501260352898812e-5
allele num: 66648
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.141e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 1.25e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

DP
type: SiteQuality
SIO_000300: 1.482082e6

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

GenotypeQuality
all individuals: 23
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51832
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.985e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.13e0

FS
type: SiteQuality
SIO_000300: 1.141e0

DP
type: SiteQuality
SIO_000300: 1.482082e6

QD
type: SiteQuality
SIO_000300: 1.25e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 1175
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
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: 16488
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.25e-1

FS
type: SiteQuality
SIO_000300: 6.919999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.415e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 6.65e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

DP
type: SiteQuality
SIO_000300: 1.481331e6

BaseQRankSum
type: SiteQuality
SIO_000300: -7.807e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.33e-1

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4595
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.487561032318065e-4
allele num: 8602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 1.951658910073562e-4
allele num: 66610
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

Latino
type: Population
allele count: 10
allele frequency: 8.652015919709292e-4
allele num: 11558
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

DP
type: SiteQuality
SIO_000300: 1.482011e6

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.47e-2

QD
type: SiteQuality
SIO_000300: 1.626e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.15e0

GenotypeQuality
all individuals: 51677
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 503
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 267
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501817198810561e-5
allele num: 66586
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.494e0

MQRankSum
type: SiteQuality
SIO_000300: -8.1e-2

FS
type: SiteQuality
SIO_000300: 4.38e0

QD
type: SiteQuality
SIO_000300: 1.627e1

DP
type: SiteQuality
SIO_000300: 1.479271e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.324e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.344000000000001e-1

GenotypeQuality
all individuals: 229
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 689
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 974
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50195253829979e-5
allele num: 66580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
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: 16486
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.289e1

FS
type: SiteQuality
SIO_000300: 5.716e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.18e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 1.47904e6

GenotypeQuality
all individuals: 250
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51652
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 970
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.213150551983501e-4
allele num: 16486
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
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: -1.264e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.415e1

MQRankSum
type: SiteQuality
SIO_000300: 2.03e0

VQSLOD
type: SiteQuality
SIO_000300: -7.665e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.479011e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.52e0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1177
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4578
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.704652001442481e-4
allele num: 66552
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.328e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.254e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.9e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 5.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.0e-3

DP
type: SiteQuality
SIO_000300: 1.480342e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.05e-1

GenotypeQuality
all individuals: 1179
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4584
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06501698204755e-5
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66544
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.81e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

QD
type: SiteQuality
SIO_000300: 1.776e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

VQSLOD
type: SiteQuality
SIO_000300: -3.969e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.322e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.478765e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.6e-3

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 690
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variant carriers: 1

GenotypeQuality
all individuals: 1182
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.066488716330988e-5
allele num: 16484
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66526
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.478825e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.71e0

VQSLOD
type: SiteQuality
SIO_000300: -8.978e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.886e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.044e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.94e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 25
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66530
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.926e1

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-1

FS
type: SiteQuality
SIO_000300: 3.228e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.975e0

QD
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SIO_000300: 1.229e1

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.34e-1

DP
type: SiteQuality
SIO_000300: 1.47911e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503126503126503e-5
allele num: 66528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.942124684404739e-4
allele num: 10298
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.937e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

QD
type: SiteQuality
SIO_000300: 1.381e1

DP
type: SiteQuality
SIO_000300: 1.479227e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 969
bin: 7.75e1
variant carriers: 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: 1
allele frequency: 6.065752759917505e-5
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10300
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.68e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.36e-1

FS
type: SiteQuality
SIO_000300: 2.368e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.735e0

DP
type: SiteQuality
SIO_000300: 1.479302e6

QD
type: SiteQuality
SIO_000300: 1.021e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502765087761481e-5
allele num: 66544
num of homozygotes: 0

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

Latino
type: Population
allele count: 6
allele frequency: 5.197505197505198e-4
allele num: 11544
num of homozygotes: 0

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

African
type: Population
allele count: 89
allele frequency: 8.644133644133644e-3
allele num: 10296
num of homozygotes: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e-1

DP
type: SiteQuality
SIO_000300: 1.490609e6

QD
type: SiteQuality
SIO_000300: 1.246e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.102e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.86e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.61e0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 230
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 81
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 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: 11546
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16333178222429e-4
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

VQSLOD
type: SiteQuality
SIO_000300: 6.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.52e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.225e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e0

DP
type: SiteQuality
SIO_000300: 1.479689e6

QD
type: SiteQuality
SIO_000300: 1.474e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503036132988637e-5
allele num: 66532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.545454545454545e-4
allele num: 6600
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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BaseQRankSum
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MQRankSum
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.952e1

ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11546
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.502900598154438e-5
allele num: 66538
num of homozygotes: 0

South Asian
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African
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allele frequency: 0.0e0
allele num: 10296
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.11e0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 10294
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East Asian
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allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66536
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.59e-1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 2.53e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6602
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East Asian
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allele num: 8596
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502900598154438e-5
allele num: 66538
num of homozygotes: 0

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

BaseQRankSum
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VQSLOD
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66540
num of homozygotes: 0

Latino
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num of homozygotes: 0

South Asian
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allele frequency: 1.21300339640951e-4
allele num: 16488
num of homozygotes: 0

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

QD
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.144e0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: 1.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.480528e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.21e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6602
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East Asian
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allele frequency: 0.0e0
allele num: 8600
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 3.460806367883717e-4
allele num: 11558
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South Asian
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allele frequency: 0.0e0
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Other
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allele num: 906
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.51e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-1

QD
type: SiteQuality
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FS
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BaseQRankSum
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VQSLOD
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DP
type: SiteQuality
SIO_000300: 1.48119e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 906
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European (Non-Finnish)
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allele frequency: 1.502268425322237e-5
allele num: 66566
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

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

African
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allele frequency: 9.721952167995334e-5
allele num: 10286
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DP
type: SiteQuality
SIO_000300: 1.481299e6

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
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BaseQRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.229e0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11558
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10288
num of homozygotes: 0

European (Non-Finnish)
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allele count: 19
allele frequency: 2.853624102610315e-4
allele num: 66582
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
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QD
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FS
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SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.77e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 1.482932e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.78e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 9
allele frequency: 1.351310771448305e-4
allele num: 66602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11562
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10264
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.482304e6

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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MQ
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SIO_000300: 5.979e1

InbreedingCoeff
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SIO_000300: -2.0e-4

BaseQRankSum
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.32e-1

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.002822653294096e-5
allele num: 66604
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.507999999999999e0

QD
type: SiteQuality
SIO_000300: 1.512e1

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.62e-1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -6.816e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.83e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
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Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10228
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501005673801447e-5
allele num: 66622
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.61e0

DP
type: SiteQuality
SIO_000300: 1.48178e6

MQ
type: SiteQuality
SIO_000300: 5.983e1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

South Asian
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allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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ClippingRankSum
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VQSLOD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6606
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.001200480192077e-5
allele num: 66640
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

DP
type: SiteQuality
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QD
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MQ
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FS
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
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allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
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African
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66638
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8622
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6608
num of homozygotes: 0

South Asian
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allele frequency: 6.062075654704171e-5
allele num: 16496
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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MQ
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 7.502100588164687e-5
allele num: 66648
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
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South Asian
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Other
type: Population
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allele num: 906
num of homozygotes: 0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
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MQRankSum
type: SiteQuality
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VQSLOD
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DP
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQ
type: SiteQuality
SIO_000300: 5.981e1

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

European (Non-Finnish)
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allele num: 66666
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Latino
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Other
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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African
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East Asian
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allele frequency: 3.012048192771084e-3
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
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ReadPosRankSum
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.118e0

MQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

DP
type: SiteQuality
SIO_000300: 1.483792e6

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 692
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 51905
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4616
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
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: 10176
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
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: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.58e0

DP
type: SiteQuality
SIO_000300: 1.481932e6

FS
type: SiteQuality
SIO_000300: 5.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

QD
type: SiteQuality
SIO_000300: 2.775e1

VQSLOD
type: SiteQuality
SIO_000300: -2.595e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 4610
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 7.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10140
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.235e0

VQSLOD
type: SiteQuality
SIO_000300: -1.13e0

QD
type: SiteQuality
SIO_000300: 1.425e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

DP
type: SiteQuality
SIO_000300: 1.481293e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.79e-1

FS
type: SiteQuality
SIO_000300: 1.166e1

GenotypeQuality
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 9.75e1
variant carriers: 9

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 8
allele frequency: 7.895775759968417e-4
allele num: 10132
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 7.41e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

FS
type: SiteQuality
SIO_000300: 5.53e-1

DP
type: SiteQuality
SIO_000300: 1.481356e6

MQRankSum
type: SiteQuality
SIO_000300: -3.47e0

MQ
type: SiteQuality
SIO_000300: 5.327e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

GenotypeQuality
all individuals: 46
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51748
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 695
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 221
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66666
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062810719049351e-5
allele num: 16494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
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: 10104
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 4.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.78e-1

DP
type: SiteQuality
SIO_000300: 1.480331e6

FS
type: SiteQuality
SIO_000300: 4.417e0

MQRankSum
type: SiteQuality
SIO_000300: -6.26e-1

QD
type: SiteQuality
SIO_000300: 1.669e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e-2

GenotypeQuality
all individuals: 495
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51746
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.906875371507826e-5
allele num: 10094
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66658
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.225e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: 2.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

QD
type: SiteQuality
SIO_000300: 1.364e1

DP
type: SiteQuality
SIO_000300: 1.479997e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.596e0

GenotypeQuality
all individuals: 51562
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 707
bin: 9.75e1
variant carriers: 16

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

GenotypeQuality
all individuals: 1191
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4588
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66652
num of homozygotes: 0

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

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

African
type: Population
allele count: 16
allele frequency: 1.589825119236884e-3
allele num: 10064
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -6.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.479312e6

QD
type: SiteQuality
SIO_000300: 1.574e1

MQRankSum
type: SiteQuality
SIO_000300: 1.74e-1

FS
type: SiteQuality
SIO_000300: 1.759e0

MQ
type: SiteQuality
SIO_000300: 5.955e1

VQSLOD
type: SiteQuality
SIO_000300: 2.42e0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4576
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 693
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 495
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51495
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10058
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
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: 1.500510173458976e-5
allele num: 66644
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.269e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 2.25e1

DP
type: SiteQuality
SIO_000300: 1.477928e6

FS
type: SiteQuality
SIO_000300: 3.041e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.96e-1

GenotypeQuality
all individuals: 1189
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4571
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51473
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 300
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66642
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16468
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
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: 5.89e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.47749e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.059e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.443e1

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500600240096038e-5
allele num: 66640
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.485e1

VQSLOD
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.474137e6

FS
type: SiteQuality
SIO_000300: 1.774e0

MQRankSum
type: SiteQuality
SIO_000300: -9.94e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-2

GenotypeQuality
all individuals: 162
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
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GenotypeQuality
all individuals: 50952
bin: 6.25e1
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GenotypeQuality
all individuals: 693
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 495
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.089392278650591e-5
allele num: 16422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10064
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001380635092142e-5
allele num: 66636
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 1.473743e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.15e-1

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.439e1

VQSLOD
type: SiteQuality
SIO_000300: 3.24e0

FS
type: SiteQuality
SIO_000300: 5.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.76e-1

GenotypeQuality
all individuals: 215
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 968
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16416
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: 6612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00147072065312e-5
allele num: 66634
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.065e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.209e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.29e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 3.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.472159e6

QD
type: SiteQuality
SIO_000300: 1.122e1

GenotypeQuality
all individuals: 97
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50684
bin: 6.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.928514694201747e-5
allele num: 10072
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
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: 20
allele frequency: 3.001380635092143e-4
allele num: 66636
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.828599292941607e-4
allele num: 16406
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.35e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.487e1

VQSLOD
type: SiteQuality
SIO_000300: 4.69e0

MQRankSum
type: SiteQuality
SIO_000300: -7.3e-2

DP
type: SiteQuality
SIO_000300: 1.472874e6

GenotypeQuality
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 50197
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variant carriers: 0

GenotypeQuality
all individuals: 134
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10068
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 (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66620
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.84e-1

FS
type: SiteQuality
SIO_000300: 9.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.18e0

DP
type: SiteQuality
SIO_000300: 1.468989e6

MQRankSum
type: SiteQuality
SIO_000300: 8.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.09e-1

QD
type: SiteQuality
SIO_000300: 1.296e1

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 8.25e1
variant carriers: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16376
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: 2
allele frequency: 3.001831116981359e-5
allele num: 66626
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.97e-1

FS
type: SiteQuality
SIO_000300: 2.829e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 8.19e-1

DP
type: SiteQuality
SIO_000300: 1.468576e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.413e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1172
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.984520738241715e-4
allele num: 10078
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.46e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.46655e6

FS
type: SiteQuality
SIO_000300: 3.005e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

QD
type: SiteQuality
SIO_000300: 1.433e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66582
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.12369871402327e-5
allele num: 16330
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.906e1

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

QD
type: SiteQuality
SIO_000300: 1.487e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.51e0

DP
type: SiteQuality
SIO_000300: 1.46425e6

FS
type: SiteQuality
SIO_000300: 4.481e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.100000000000001e-1

GenotypeQuality
all individuals: 234
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 670
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variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10110
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16228
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.31e-1

MQ
type: SiteQuality
SIO_000300: 5.974e1

MQRankSum
type: SiteQuality
SIO_000300: 4.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.25e0

QD
type: SiteQuality
SIO_000300: 1.346e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.73e-1

DP
type: SiteQuality
SIO_000300: 1.46432e6

GenotypeQuality
all individuals: 430
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4524
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 237
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variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16318
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: 9.881422924901186e-5
allele num: 10120
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.975e1

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
SIO_000300: 1.477e1

FS
type: SiteQuality
SIO_000300: 4.032e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.55e-1

DP
type: SiteQuality
SIO_000300: 1.464343e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

GenotypeQuality
all individuals: 386
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variant carriers: 0

GenotypeQuality
all individuals: 237
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.505180958101817e-5
allele num: 66590
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10146
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16304
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.46495e6

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.498e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

FS
type: SiteQuality
SIO_000300: 9.404e0

VQSLOD
type: SiteQuality
SIO_000300: 5.72e-1

GenotypeQuality
all individuals: 285
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variant carriers: 0

GenotypeQuality
all individuals: 507
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66586
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8646
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Other
type: Population
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allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10158
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.140997297961189e-5
allele num: 16284
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: -8.2e-2

DP
type: SiteQuality
SIO_000300: 1.465386e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.08e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 218
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variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 8.25e1
variant carriers: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 902
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Latino
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allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502042778178322e-5
allele num: 66576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16268
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.933e-1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.32e-1

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.467431e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.646e1

FS
type: SiteQuality
SIO_000300: 6.078e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 131
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GenotypeQuality
all individuals: 4725
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

Other
type: Population
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allele num: 902
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.801999607920016e-5
allele num: 10202
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16330
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.95e-1

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 2.686e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.37e-1

DP
type: SiteQuality
SIO_000300: 1.471358e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 241
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GenotypeQuality
all individuals: 223
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variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 535
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.007990627534621e-5
allele num: 66578
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16334
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.472425e6

VQSLOD
type: SiteQuality
SIO_000300: 5.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.646e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.066e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.29e-1

QD
type: SiteQuality
SIO_000300: 1.558e1

GenotypeQuality
all individuals: 547
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4756
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50110
bin: 6.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10240
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 6.973e0

QD
type: SiteQuality
SIO_000300: 1.289e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.503e0

VQSLOD
type: SiteQuality
SIO_000300: 4.01e-1

DP
type: SiteQuality
SIO_000300: 1.474938e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4845
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 8644
num of homozygotes: 0

African
type: Population
allele count: 22
allele frequency: 2.141327623126338e-3
allele num: 10274
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.106497313141182e-5
allele num: 16376
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.61e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.938e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.480979e6

VQSLOD
type: SiteQuality
SIO_000300: 5.96e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

QD
type: SiteQuality
SIO_000300: 1.368e1