1-110032992-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110032992
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110032992
    reference: chr 1
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1298C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000604728
  gene symbol: ATXN7L2
  hgvsc: ENST00000604728.1:n.666C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.678C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1336C>T
  hgvsp: ENSP00000358886.3:p.His446Tyr
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3028C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11603
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1958
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12997
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7207
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6294
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  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: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19209
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17447
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His446Tyr
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

1-110032994-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110032994
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110032994
    reference: chr 1
allele count: 8
allele frequency: 6.605892456070815e-5
allele num: 121104
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1338C>T
  hgvsp: ENST00000369870.3:c.1338C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3030C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1300C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000604728
  gene symbol: ATXN7L2
  hgvsc: ENST00000604728.1:n.668C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.680C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1960
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8899
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1111
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7206
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5721
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His446His
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

1-110032997-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110032997
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110032997
    reference: chr 1
allele count: 1
allele frequency: 8.258729477057249e-6
allele num: 121084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000604728
  gene symbol: ATXN7L2
  hgvsc: ENST00000604728.1:n.671C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3033C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1303C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.683C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1341C>T
  hgvsp: ENST00000369870.3:c.1341C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5177
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 76
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
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genotype quality: GenotypeQuality
  all individuals: 2259
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2706
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17488
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 5
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genotype quality: GenotypeQuality
  all individuals: 4582
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu447Leu
num of homozygotes: 0
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

1-110033025-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033025
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033025
    reference: chr 1
allele count: 1
allele frequency: 8.320298199487469e-6
allele num: 120188
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.700+11C>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1320+11C>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1358+11C>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3050+11C>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000604728
  gene symbol: ATXN7L2
  hgvsc: ENST00000604728.1:n.688+11C>G
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1351
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
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genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19189
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genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 418
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3806
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4294
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

1-110033025-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033025
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033025
    reference: chr 1
allele count: 5
allele frequency: 4.160149099743735e-5
allele num: 120188
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1358+11C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.700+11C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000604728
  gene symbol: ATXN7L2
  hgvsc: ENST00000604728.1:n.688+11C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1320+11C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3050+11C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12505
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8858
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1959
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3193
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15740
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5510
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4542
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19189
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4294
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/1-110033035-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033035
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033035
    reference: chr 1
allele count: 1
allele frequency: 8.344598541364175e-6
allele num: 119838
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.700+21A>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1320+21A>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000604728
  gene symbol: ATXN7L2
  hgvsc: ENST00000604728.1:n.688+21A>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1358+21A>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3050+21A>C
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1107
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4446
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8827
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11163
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19170
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5392
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1818
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14410
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3805
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/1-110033053-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033053
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033053
    reference: chr 1
allele count: 2
allele frequency: 1.678866429386878e-5
allele num: 119128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3050+39A>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.700+39A>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1358+39A>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1320+39A>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000604728
  gene symbol: ATXN7L2
  hgvsc: ENST00000604728.1:n.688+39A>C
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3343
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3192
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8690
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10282
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1956
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2502
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4840
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10367
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

1-110033056-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033056
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033056
    reference: chr 1
allele count: 10
allele frequency: 8.413684015683106e-5
allele num: 118854
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000604728
  gene symbol: ATXN7L2
  hgvsc: ENST00000604728.1:n.688+42T>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1320+42T>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1358+42T>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3050+42T>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.700+42T>G
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9842
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8626
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8204
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1028
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3787
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2000
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4356
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2002
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19157
  bin: 9.75e1
  variant carriers: 10
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-110033493-G-GAAGCTGTCT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033493
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033502
    reference: chr 1
allele count: 6
allele frequency: 5.535566011624689e-5
allele num: 108390
alternate allele: GAAGCTGTCT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000604728
  gene symbol: ATXN7L2
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26910
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9587
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10526
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2667
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2429
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2029
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 996
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34709
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 737
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

1-110033509-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033509
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033509
    reference: chr 1
allele count: 31
allele frequency: 2.859567559589698e-4
allele num: 108408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3051-35T>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1359-35T>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.701-35T>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000604728
  gene symbol: ATXN7L2
  hgvsc: ENST00000604728.1:n.689-35T>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1321-35T>C
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1923
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 26982
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10778
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9598
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 874
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 9004
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35074
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3399
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2018
  bin: 9.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1540
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

1-110033513-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033513
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033513
    reference: chr 1
allele count: 2
allele frequency: 1.84481422720732e-5
allele num: 108412
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1359-31C>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3051-31C>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000604728
  gene symbol: ATXN7L2
  hgvsc: ENST00000604728.1:n.689-31C>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1321-31C>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.701-31C>G
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10818
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3405
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2660
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35174
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-110033519-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033519
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033519
    reference: chr 1
allele count: 2
allele frequency: 1.8432500184325e-5
allele num: 108504
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000604728
  gene symbol: ATXN7L2
  hgvsc: ENST00000604728.1:n.689-25C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1321-25C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3051-25C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.701-25C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1359-25C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3792
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9605
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9017
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3358
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2660
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

1-110033522-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033522
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033522
    reference: chr 1
allele count: 2
allele frequency: 1.842367073215667e-5
allele num: 108556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000604728
  gene symbol: ATXN7L2
  hgvsc: ENST00000604728.1:n.689-22T>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.701-22T>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1359-22T>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1321-22T>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3051-22T>C
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11031
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9611
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9029
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2659
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35486
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/1-110033531-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033531
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033531
    reference: chr 1
allele count: 3
allele frequency: 2.756947507719453e-5
allele num: 108816
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1321-13C>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000604728
  gene symbol: ATXN7L2
  hgvsc: ENST00000604728.1:n.689-13C>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.701-13C>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1359-13C>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3051-13C>A
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11209
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9624
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2932
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35663
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

1-110033547-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033547
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033547
    reference: chr 1
allele count: 7
allele frequency: 6.406853502718336e-5
allele num: 109258
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000604728
  gene symbol: ATXN7L2
  hgvsc: ENST00000604728.1:n.692G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.704G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1362G>A
  hgvsp: ENST00000369870.3:c.1362G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3054G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1324G>A
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27278
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2013
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2423
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9083
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35920
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Lys454Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

1-110033553-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033553
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033553
    reference: chr 1
allele count: 2
allele frequency: 1.824551160414538e-5
allele num: 109616
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000604728
  gene symbol: ATXN7L2
  hgvsc: ENST00000604728.1:n.698A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1368A>G
  hgvsp: ENST00000369870.3:c.1368A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3060A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1330A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.710A>G
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27309
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 814
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4037
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 994
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35787
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1622
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro456Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

1-110033555-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033555
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033555
    reference: chr 1
allele count: 1
allele frequency: 9.11527172625016e-6
allele num: 109706
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1370C>T
  hgvsp: ENSP00000358886.3:p.Pro457Leu
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1332C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.712C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000604728
  gene symbol: ATXN7L2
  hgvsc: ENST00000604728.1:n.700C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3062C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4075
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2248
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9669
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9063
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2419
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2662
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3752
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro457Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-110033556-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033556
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033556
    reference: chr 1
allele count: 18
allele frequency: 1.637971826884578e-4
allele num: 109892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1333G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.713G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3063G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1371G>A
  hgvsp: ENST00000369870.3:c.1371G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000604728
  gene symbol: ATXN7L2
  hgvsc: ENST00000604728.1:n.701G>A
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27341
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9666
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35922
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2418
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9067
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3876
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro457Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

1-110033567-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033567
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033567
    reference: chr 1
allele count: 3
allele frequency: 2.705383713590044e-5
allele num: 110890
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3074C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1344C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.724C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1382C>T
  hgvsp: ENSP00000358886.3:p.Pro461Leu
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000604728
  gene symbol: ATXN7L2
  hgvsc: ENST00000604728.1:n.712C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9643
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11542
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1129
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9089
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 992
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
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  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 396
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro461Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

1-110033580-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033580
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033580
    reference: chr 1
allele count: 1
allele frequency: 8.907733694393473e-6
allele num: 112262
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1357T>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1395T>A
  hgvsp: ENST00000369870.3:c.1395T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.737T>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3087T>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000604728
  gene symbol: ATXN7L2
  hgvsc: ENST00000604728.1:n.725T>A
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27458
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 524
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3903
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36672
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu465Leu
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

1-110033583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033583
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033583
    reference: chr 1
allele count: 3
allele frequency: 2.666998559820778e-5
allele num: 112486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1360C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3090C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.740C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1398C>T
  hgvsp: ENST00000369870.3:c.1398C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12009
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9646
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3805
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2673
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9126
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36684
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val466Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD

1-110033585-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033585
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033585
    reference: chr 1
allele count: 3
allele frequency: 2.661225938082143e-5
allele num: 112730
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3092A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1362A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1400A>G
  hgvsp: ENSP00000358886.3:p.Asn467Ser
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.742A>G
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27506
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36692
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 271
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
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genotype quality: GenotypeQuality
  all individuals: 112
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genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9126
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asn467Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS

1-110033585-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033585
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033585
    reference: chr 1
allele count: 1
allele frequency: 8.870753126940477e-6
allele num: 112730
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.742A>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1400A>T
  hgvsp: ENSP00000358886.3:p.Asn467Ile
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3092A>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1362A>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27506
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3730
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9649
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn467Ile
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

1-110033588-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033588
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033588
    reference: chr 1
allele count: 1
allele frequency: 8.834546611067921e-6
allele num: 113192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1365C>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.745C>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3095C>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1403C>G
  hgvsp: ENSP00000358886.3:p.Ser468Cys
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27537
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 991
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9131
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser468Cys
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP

1-110033588-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033588
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033588
    reference: chr 1
allele count: 1
allele frequency: 8.834546611067921e-6
allele num: 113192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1365C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.745C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3095C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1403C>T
  hgvsp: ENSP00000358886.3:p.Ser468Phe
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3580
  bin: 7.5e0
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genotype depth: GenotypeDepth
  all individuals: 27537
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9131
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 437
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1958
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser468Phe
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

1-110033591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033591
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033591
    reference: chr 1
allele count: 1
allele frequency: 8.794301292762291e-6
allele num: 113710
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1406C>T
  hgvsp: ENSP00000358886.3:p.Pro469Leu
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1368C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3098C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.748C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2238
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9656
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3537
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 439
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 351
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37101
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro469Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

1-110033592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033592
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033592
    reference: chr 1
allele count: 13
allele frequency: 1.141372104865757e-4
allele num: 113898
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1407G>A
  hgvsp: ENST00000369870.3:c.1407G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.749G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1369G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3099G>A
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12497
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 219
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 71
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 276
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37258
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro469Pro
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum

1-110033601-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033601
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033601
    reference: chr 1
allele count: 1
allele frequency: 8.645433482034789e-6
allele num: 115668
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3108T>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.758T>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1378T>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1416T>C
  hgvsp: ENST00000369870.3:c.1416T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2441
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 995
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ala472Ala
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum

1-110033605-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033605
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033605
    reference: chr 1
allele count: 1
allele frequency: 8.557833841098141e-6
allele num: 116852
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1420C>T
  hgvsp: ENST00000369870.3:c.1420C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.762C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1382C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3112C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2073
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27894
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2689
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38675
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2424
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9273
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu474Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

1-110033608-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033608
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033608
    reference: chr 1
allele count: 1
allele frequency: 8.524422470377632e-6
allele num: 117310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1385A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3115A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1423A>G
  hgvsp: ENSP00000358886.3:p.Ser475Gly
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.765A>G
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9751
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27954
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1010
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 351
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 84
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2688
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genotype quality: GenotypeQuality
  all individuals: 9299
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genotype quality: GenotypeQuality
  all individuals: 89
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genotype quality: GenotypeQuality
  all individuals: 86
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser475Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: DP

1-110033611-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033611
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033611
    reference: chr 1
allele count: 1
allele frequency: 8.497043029025899e-6
allele num: 117688
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1388C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.768C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1426C>T
  hgvsp: ENSP00000358886.3:p.Pro476Ser
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3118C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28031
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9784
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 219
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
  all individuals: 272
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro476Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-110033622-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033622
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033622
    reference: chr 1
allele count: 1
allele frequency: 8.441810599537389e-6
allele num: 118458
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1399A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3129A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1437A>G
  hgvsp: ENST00000369870.3:c.1437A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.779A>G
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9380
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2462
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr479Thr
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

1-110033626-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033626
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033626
    reference: chr 1
allele count: 2
allele frequency: 1.687365010799136e-5
allele num: 118528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3133A>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1403A>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.783A>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1441A>T
  hgvsp: ENSP00000358886.3:p.Thr481Ser
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9870
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 122
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1008
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 126
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genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 371
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 9345
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr481Ser
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP

1-110033627-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033627
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033627
    reference: chr 1
allele count: 1
allele frequency: 8.430139434506248e-6
allele num: 118622
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1404C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.784C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3134C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1442C>T
  hgvsp: ENSP00000358886.3:p.Thr481Ile
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28337
  bin: 2.75e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 227
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genotype quality: GenotypeQuality
  all individuals: 218
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  variant carriers: 0
hgvs: p.Thr481Ile
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-110033632-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033632
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033632
    reference: chr 1
allele count: 152
allele frequency: 1.27782635012442e-3
allele num: 118952
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1447C>T
  hgvsp: ENSP00000358886.3:p.Pro483Ser
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3139C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1409C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.789C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 209
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 808
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 120
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro483Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum

1-110033636-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033636
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033636
    reference: chr 1
allele count: 1
allele frequency: 8.382791804982731e-6
allele num: 119292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3143G>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1451G>C
  hgvsp: ENSP00000358886.3:p.Arg484Pro
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1413G>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.793G>C
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2735
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1329
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2463
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1798
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg484Pro
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

1-110033643-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033643
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033643
    reference: chr 1
allele count: 15
allele frequency: 1.254138657569981e-4
allele num: 119604
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1458A>G
  hgvsp: ENST00000369870.3:c.1458A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1420A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.6A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3150A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.800A>G
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 9.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9920
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1214
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40303
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro486Pro
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/1-110033652-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033652
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033652
    reference: chr 1
allele count: 182
allele frequency: 1.520950677742307e-3
allele num: 119662
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1429C>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.809C>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3159C>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1467C>A
  hgvsp: ENST00000369870.3:c.1467C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.15C>A
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14535
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2254
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 28717
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9917
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 9.75e1
  variant carriers: 124
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1027
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9460
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 9.75e1
  variant carriers: 181
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40170
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr489Thr
num of homozygotes: 1
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

1-110033659-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033659
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033659
    reference: chr 1
allele count: 1
allele frequency: 8.357430591538938e-6
allele num: 119654
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.816C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1436C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.22C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3166C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1474C>T
  hgvsp: ENSP00000358886.3:p.Pro492Ser
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1624
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2745
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9483
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro492Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ

1-110033668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033668
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033668
    reference: chr 1
allele count: 1118
allele frequency: 9.33393444539064e-3
allele num: 119778
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1483C>T
  hgvsp: ENSP00000358886.3:p.Pro495Ser
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1445C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.31C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3175C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.825C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 4.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 9978
  bin: 3.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 6.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 2192
  bin: 3.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 5.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 14443
  bin: 2.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 29035
  bin: 2.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 5.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 9.75e1
  variant carriers: 424
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 4.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2727
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1891
  bin: 9.75e1
  variant carriers: 1048
genotype quality: GenotypeQuality
  all individuals: 40442
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 999
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9507
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2445
  bin: 7.75e1
  variant carriers: 3
hgvs: p.Pro495Ser
num of homozygotes: 55
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

1-110033671-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033671
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033671
    reference: chr 1
allele count: 2
allele frequency: 1.670732114812711e-5
allele num: 119708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3178G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.34G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.828G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1448G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1486G>A
  hgvsp: ENSP00000358886.3:p.Ala496Thr
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 14590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29496
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10124
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2784
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2489
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40959
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala496Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum

1-110033673-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033673
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033673
    reference: chr 1
allele count: 1
allele frequency: 8.352544184958738e-6
allele num: 119724
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.830C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1450C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1488C>T
  hgvsp: ENST00000369870.3:c.1488C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.36C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3180C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10114
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29512
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2787
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40956
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9677
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala496Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

1-110033677-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033677
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033677
    reference: chr 1
allele count: 1
allele frequency: 8.351009637065121e-6
allele num: 119746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3184A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.40A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1492A>G
  hgvsp: ENSP00000358886.3:p.Met498Val
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.834A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1454A>G
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14593
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41011
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1285
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2488
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Met498Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

1-110033678-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033678
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033678
    reference: chr 1
allele count: 1
allele frequency: 8.352544184958738e-6
allele num: 119724
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3185T>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1455T>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1493T>C
  hgvsp: ENSP00000358886.3:p.Met498Thr
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.41T>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.835T>C
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29511
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40961
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met498Thr
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

1-110033682-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033682
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033682
    reference: chr 1
allele count: 1
allele frequency: 8.348917980229763e-6
allele num: 119776
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.839C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3189C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1497C>T
  hgvsp: ENST00000369870.3:c.1497C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1459C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.45C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14534
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40981
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro499Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-110033684-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033684
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033684
    reference: chr 1
allele count: 1
allele frequency: 8.349615082744685e-6
allele num: 119766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.47C>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.841C>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1499C>A
  hgvsp: ENSP00000358886.3:p.Pro500His
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1461C>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3191C>A
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10094
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29558
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9645
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 842
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40923
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genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro500His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

1-110033685-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033685
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033685
    reference: chr 1
allele count: 1
allele frequency: 8.350451759440186e-6
allele num: 119754
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3192C>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1462C>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.48C>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1500C>G
  hgvsp: ENST00000369870.3:c.1500C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.842C>G
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2778
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9642
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40924
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro500Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/1-110033687-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033687
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033687
    reference: chr 1
allele count: 1
allele frequency: 8.350451759440186e-6
allele num: 119754
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1464C>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.844C>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.50C>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3194C>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1502C>A
  hgvsp: ENSP00000358886.3:p.Thr501Asn
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29551
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14518
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40870
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9621
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2767
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr501Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

1-110033688-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033688
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033688
    reference: chr 1
allele count: 6
allele frequency: 5.010438413361169e-5
allele num: 119750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.845C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3195C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.51C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1503C>T
  hgvsp: ENST00000369870.3:c.1503C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1465C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
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genotype quality: GenotypeQuality
  all individuals: 40948
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genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9617
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr501Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum

1-110033696-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033696
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033696
    reference: chr 1
allele count: 26
allele frequency: 2.171262505636932e-4
allele num: 119746
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1473A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1511A>G
  hgvsp: ENSP00000358886.3:p.Asn504Ser
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.853A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.59A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3203A>G
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 29533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10086
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14495
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 830
  bin: 9.75e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 2448
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41027
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9594
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asn504Ser
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

1-110033697-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033697
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033697
    reference: chr 1
allele count: 1
allele frequency: 8.348778573694668e-6
allele num: 119778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.60C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.854C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1474C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1512C>T
  hgvsp: ENST00000369870.3:c.1512C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3204C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2180
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10097
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2763
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41012
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1519
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn504Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/1-110033703-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033703
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033703
    reference: chr 1
allele count: 1
allele frequency: 8.353800143685363e-6
allele num: 119706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3210C>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.66C>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.860C>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1518C>A
  hgvsp: ENST00000369870.3:c.1518C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1480C>A
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29381
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9539
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2428
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val506Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-110033726-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033726
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033726
    reference: chr 1
allele count: 2
allele frequency: 1.682114080976972e-5
allele num: 118898
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1541C>T
  hgvsp: ENSP00000358886.3:p.Pro514Leu
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1503C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.89C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3233C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.883C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29004
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 19
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genotype depth: GenotypeDepth
  all individuals: 146
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genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
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genotype quality: GenotypeQuality
  all individuals: 9143
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2257
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 2325
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Pro514Leu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

1-110033729-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033729
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033729
    reference: chr 1
allele count: 1
allele frequency: 8.475294516484449e-6
allele num: 117990
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1544G>C
  hgvsp: ENSP00000358886.3:p.Ser515Thr
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1506G>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.886G>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3236G>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.92G>C
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14805
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2147
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 740
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2546
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 233
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser515Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-110033731-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033731
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033731
    reference: chr 1
allele count: 2
allele frequency: 1.704710114045107e-5
allele num: 117322
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1546G>A
  hgvsp: ENSP00000358886.3:p.Val516Met
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3238G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1508G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.94G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.888G>A
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29111
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
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genotype depth: GenotypeDepth
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  bin: 1.25e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8715
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38341
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1810
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val516Met
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

1-110033736-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033736
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033736
    reference: chr 1
allele count: 8
allele frequency: 6.790018672551349e-5
allele num: 117820
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.99G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3243G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.893G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1513G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1551G>A
  hgvsp: ENST00000369870.3:c.1551G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1569
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29365
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14920
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8701
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 807
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala517Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

1-110033737-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033737
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033737
    reference: chr 1
allele count: 11
allele frequency: 9.374467359809102e-5
allele num: 117340
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3244G>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1552G>C
  hgvsp: ENSP00000358886.3:p.Ala518Pro
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.100G>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.894G>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1514G>C
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29355
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala518Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

1-110033742-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033742
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033742
    reference: chr 1
allele count: 1
allele frequency: 8.443806467955754e-6
allele num: 118430
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1557C>T
  hgvsp: ENST00000369870.3:c.1557C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.899C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3249C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1519C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.105C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29720
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala519Ala
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

1-110033757-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033757
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033757
    reference: chr 1
allele count: 1
allele frequency: 8.427723840345199e-6
allele num: 118656
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.914G>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3264G>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.120G>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1572G>C
  hgvsp: ENSP00000358886.3:p.Glu524Asp
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1534G>C
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1324
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2165
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 427
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Glu524Asp
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: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

1-110033761-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033761
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033761
    reference: chr 1
allele count: 1
allele frequency: 8.418500496691529e-6
allele num: 118786
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1538A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.124A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1576A>G
  hgvsp: ENSP00000358886.3:p.Met526Val
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.918A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3268A>G
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1294
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29669
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40517
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8655
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2055
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2078
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met526Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

1-110033766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033766
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033766
    reference: chr 1
allele count: 4
allele frequency: 3.363266404331887e-5
allele num: 118932
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.923C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.129C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3273C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1543C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1581C>T
  hgvsp: ENST00000369870.3:c.1581C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8591
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1853
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8575
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40709
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly527Gly
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD

1-110033767-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033767
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033767
    reference: chr 1
allele count: 2
allele frequency: 1.679627794480743e-5
allele num: 119074
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.130G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1544G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.924G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3274G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1582G>A
  hgvsp: ENSP00000358886.3:p.Gly528Arg
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1220
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16823
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 262
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2034
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41145
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8583
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly528Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

1-110033779-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033779
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033779
    reference: chr 1
allele count: 1
allele frequency: 8.363301831563101e-6
allele num: 119570
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.936A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1594A>G
  hgvsp: ENSP00000358886.3:p.Ile532Val
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3286A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.142A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1556A>G
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8357
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42313
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1353
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 760
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile532Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ

1-110033781-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033781
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033781
    reference: chr 1
allele count: 1
allele frequency: 8.362602441879913e-6
allele num: 119580
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.144C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3288C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1558C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1596C>T
  hgvsp: ENST00000369870.3:c.1596C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.938C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17704
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1987
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8637
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ile532Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

1-110033783-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033783
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033783
    reference: chr 1
allele count: 1
allele frequency: 8.357011532675915e-6
allele num: 119660
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1560C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3290C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.146C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.940C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1598C>T
  hgvsp: ENSP00000358886.3:p.Thr533Ile
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 19
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 15
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genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 745
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 8659
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 52
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genotype quality: GenotypeQuality
  all individuals: 1975
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genotype quality: GenotypeQuality
  all individuals: 1261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr533Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum

1-110033786-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033786
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033786
    reference: chr 1
allele count: 3
allele frequency: 2.506600715216737e-5
allele num: 119684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3293C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.943C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1601C>T
  hgvsp: ENSP00000358886.3:p.Ser534Leu
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1563C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.149C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30044
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8638
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1969
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 235
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  variant carriers: 0
hgvs: p.Ser534Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD

1-110033799-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033799
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033799
    reference: chr 1
allele count: 1
allele frequency: 8.340005337603416e-6
allele num: 119904
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.162C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3306C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.956C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1614C>T
  hgvsp: ENST00000369870.3:c.1614C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1576C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1001
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 43531
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala538Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-110033801-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033801
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033801
    reference: chr 1
allele count: 1
allele frequency: 8.337919188887221e-6
allele num: 119934
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3308A>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.958A>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.164A>C
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1616A>C
  hgvsp: ENSP00000358886.3:p.Asn539Thr
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1578A>C
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18144
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8263
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8661
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43619
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asn539Thr
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-110033803-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033803
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033803
    reference: chr 1
allele count: 1
allele frequency: 8.337363058811759e-6
allele num: 119942
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1618A>G
  hgvsp: ENSP00000358886.3:p.Thr540Ala
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3310A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.166A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1580A>G
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.960A>G
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30556
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr540Ala
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

1-110033804-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033804
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033804
    reference: chr 1
allele count: 2
allele frequency: 1.667444807576869e-5
allele num: 119944
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3311C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.167C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1619C>T
  hgvsp: ENSP00000358886.3:p.Thr540Met
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1581C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.961C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8655
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2321
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr540Met
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP

1-110033805-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033805
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033805
    reference: chr 1
allele count: 3
allele frequency: 2.501167211365304e-5
allele num: 119944
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3312G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.962G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1620G>A
  hgvsp: ENST00000369870.3:c.1620G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1582G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.168G>A
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30636
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8331
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Thr540Thr
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

1-110033811-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033811
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033811
    reference: chr 1
allele count: 2
allele frequency: 1.66591700401486e-5
allele num: 120054
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1626C>T
  hgvsp: ENST00000369870.3:c.1626C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.174C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3318C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1588C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.968C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30849
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8673
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44047
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser542Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-110033813-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033813
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033813
    reference: chr 1
allele count: 3
allele frequency: 2.498584135656461e-5
allele num: 120068
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1628C>T
  hgvsp: ENSP00000358886.3:p.Pro543Leu
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1590C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.176C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3320C>T
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.970C>T
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18183
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30895
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44017
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1914
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 782
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro543Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

1-110033814-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 110033814
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 110033814
    reference: chr 1
allele count: 1
allele frequency: 8.326810664979099e-6
allele num: 120094
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000369869
  gene symbol: ATXN7L2
  hgvsc: ENST00000369869.1:n.971G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000358886
  ensembl transcript: ENST00000369870
  gene symbol: ATXN7L2
  hgvsc: ENST00000369870.3:c.1629G>A
  hgvsp: ENST00000369870.3:c.1629G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000459635
  gene symbol: ATXN7L2
  hgvsc: ENST00000459635.1:n.177G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000162650
  ensembl transcript: ENST00000497545
  gene symbol: ATXN7L2
  hgvsc: ENST00000497545.1:n.3321G>A
  variant of: http://identifiers.org/hgnc/28713
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000162650
  ensembl protein: ENSP00000474312
  ensembl transcript: ENST00000463678
  gene symbol: ATXN7L2
  hgvsc: ENST00000463678.1:c.*1591G>A
  variant of: http://identifiers.org/hgnc/28713
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1082
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30957
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2317
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro543Pro
num of homozygotes: 0
population: African
reference allele: G

GenotypeQuality
all individuals: 4584
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5727
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2261
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2712
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3809
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4323
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66608
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.243e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.286e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.38e-2

DP
type: SiteQuality
SIO_000300: 2.230672e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.942e0

MQRankSum
type: SiteQuality
SIO_000300: -1.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.1e0

GenotypeQuality
all individuals: 54
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17507
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3808
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 19212
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 4322
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501366243281386e-5
allele num: 66606
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: 8636
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.264652126233703e-4
allele num: 16414
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.967e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.584e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.05e-1

QD
type: SiteQuality
SIO_000300: 1.106e1

VQSLOD
type: SiteQuality
SIO_000300: 1.17e0

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

FS
type: SiteQuality
SIO_000300: 1.902e0

DP
type: SiteQuality
SIO_000300: 2.230674e6

GenotypeQuality
all individuals: 4318
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19204
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 28
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 295
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5723
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3810
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.643201542912247e-5
allele num: 10370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
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: 66596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.243e0

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

QD
type: SiteQuality
SIO_000300: 1.237e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.57e0

DP
type: SiteQuality
SIO_000300: 2.22985e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 4542
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2254
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2663
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66270
num of homozygotes: 0

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: 15938
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.87e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.103e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
SIO_000300: 6.27e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.206512e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

GenotypeQuality
all individuals: 418
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3806
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 2.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66270
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.469210754553339e-4
allele num: 11530
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.274312962730582e-5
allele num: 15938
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.206512e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.69e-1

FS
type: SiteQuality
SIO_000300: 5.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

VQSLOD
type: SiteQuality
SIO_000300: 6.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

QD
type: SiteQuality
SIO_000300: 1.103e1

GenotypeQuality
all individuals: 4272
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4493
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2615
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511350240304688e-5
allele num: 66166
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 8.59e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.897e1

VQSLOD
type: SiteQuality
SIO_000300: -7.123e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 2.18435e6

GenotypeQuality
all individuals: 19157
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 754
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4377
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4211
bin: 8.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15356
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.03342838075593e-5
allele num: 65932
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.14e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 1.256e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.254e0

DP
type: SiteQuality
SIO_000300: 2.131867e6

FS
type: SiteQuality
SIO_000300: 1.344e0

MQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.5e-1

GenotypeQuality
all individuals: 986
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2450
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4479
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65840
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15202
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.168497312456181e-3
allele num: 8558
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.89e0

MQRankSum
type: SiteQuality
SIO_000300: -2.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 2.116951e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.89e-1

QD
type: SiteQuality
SIO_000300: 1.441e1

GenotypeQuality
all individuals: 8997
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.578849899422077e-5
allele num: 62638
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 774
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.0e-1

FS
type: SiteQuality
SIO_000300: 6.066e0

DP
type: SiteQuality
SIO_000300: 1.581254e6

MQRankSum
type: SiteQuality
SIO_000300: -6.578e0

VQSLOD
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.22e-1

QD
type: SiteQuality
SIO_000300: 6.2e0

MQ
type: SiteQuality
SIO_000300: 4.861e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

GenotypeQuality
all individuals: 75
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 90
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8824
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11402
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: 31
allele frequency: 3.195217480931767e-3
allele num: 9702
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62646
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.585298e6

VQSLOD
type: SiteQuality
SIO_000300: 3.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.09e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.34e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.49e1

GenotypeQuality
all individuals: 993
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1994
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 88
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.75e1
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: 11402
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.061855670103093e-4
allele num: 9700
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62652
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.866e1

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

FS
type: SiteQuality
SIO_000300: 2.321e0

VQSLOD
type: SiteQuality
SIO_000300: -4.797e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

QD
type: SiteQuality
SIO_000300: 1.473e1

DP
type: SiteQuality
SIO_000300: 1.585759e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.95e-1

GenotypeQuality
all individuals: 258
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8846
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9726
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: 2
allele frequency: 3.190810465858328e-5
allele num: 62680
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.46e-1

DP
type: SiteQuality
SIO_000300: 1.589548e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.867e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.14e-1

QD
type: SiteQuality
SIO_000300: 1.311e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1990
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 373
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.752541184717841e-4
allele num: 11412
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9730
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: 774
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.963e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.591819e6

VQSLOD
type: SiteQuality
SIO_000300: 7.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

QD
type: SiteQuality
SIO_000300: 1.272e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.76e0

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2658
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9762
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: 2
allele frequency: 3.182787485279608e-5
allele num: 62838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.116569897275569e-4
allele num: 8956
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

FS
type: SiteQuality
SIO_000300: 4.594e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 5.961e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -4.697e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

QD
type: SiteQuality
SIO_000300: 1.238e1

DP
type: SiteQuality
SIO_000300: 1.597413e6

GenotypeQuality
all individuals: 1989
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 34
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3265
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 371
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: 11420
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9180
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.111252222504445e-4
allele num: 62992
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.017e0

MQRankSum
type: SiteQuality
SIO_000300: -1.4e-1

QD
type: SiteQuality
SIO_000300: 1.206e1

VQSLOD
type: SiteQuality
SIO_000300: 1.83e0

DP
type: SiteQuality
SIO_000300: 1.608223e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.857e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

GenotypeQuality
all individuals: 303
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2662
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9055
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.171783811215428e-5
allele num: 63056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8480
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -7.34e-1

FS
type: SiteQuality
SIO_000300: 4.985e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.49e0

DP
type: SiteQuality
SIO_000300: 1.61232e6

MQ
type: SiteQuality
SIO_000300: 5.927e1

VQSLOD
type: SiteQuality
SIO_000300: 1.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.74e-1

QD
type: SiteQuality
SIO_000300: 1.18e1

GenotypeQuality
all individuals: 1980
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 35829
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9452
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: 11426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63102
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8488
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.016466761536898e-4
allele num: 9838
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.37e-1

FS
type: SiteQuality
SIO_000300: 4.048e0

DP
type: SiteQuality
SIO_000300: 1.614203e6

QD
type: SiteQuality
SIO_000300: 1.224e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

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

GenotypeQuality
all individuals: 993
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1981
bin: 9.75e1
variant carriers: 18

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.583029919265474e-5
allele num: 63170
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
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: 9568
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 1.523461304082876e-3
allele num: 9846
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.755034144633164e-5
allele num: 11422
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17813383600377e-4
allele num: 8488
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.617011e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.51e-1

QD
type: SiteQuality
SIO_000300: 1.26e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.28e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.07e0

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

GenotypeQuality
all individuals: 56
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 272
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2669
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.621919244887258e-4
allele num: 11442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9962
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: 10150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63416
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.58e-1

QD
type: SiteQuality
SIO_000300: 1.125e1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e0

MQ
type: SiteQuality
SIO_000300: 5.908e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.95e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.958e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.57e-1

DP
type: SiteQuality
SIO_000300: 1.623025e6

GenotypeQuality
all individuals: 991
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1959
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2669
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9122
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.56631789988096e-5
allele num: 63844
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: -6.57e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e0

QD
type: SiteQuality
SIO_000300: 1.199e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.568e0

DP
type: SiteQuality
SIO_000300: 1.63297e6

GenotypeQuality
all individuals: 266
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63906
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.80538003249684e-4
allele num: 11078
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.726003490401397e-5
allele num: 11460
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.41e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.635316e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.96e0

VQSLOD
type: SiteQuality
SIO_000300: 5.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

FS
type: SiteQuality
SIO_000300: 4.41e-1

QD
type: SiteQuality
SIO_000300: 1.158e1

GenotypeQuality
all individuals: 1961
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 426
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2670
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63966
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.719916288803627e-5
allele num: 11468
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.988466892026248e-4
allele num: 10058
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.636839e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

QD
type: SiteQuality
SIO_000300: 9.16e0

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

MQ
type: SiteQuality
SIO_000300: 5.927e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

VQSLOD
type: SiteQuality
SIO_000300: 9.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

FS
type: SiteQuality
SIO_000300: 3.37e0

GenotypeQuality
all individuals: 2424
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2670
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563330519338399e-5
allele num: 63966
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.18e-1

FS
type: SiteQuality
SIO_000300: 3.37e0

QD
type: SiteQuality
SIO_000300: 9.16e0

VQSLOD
type: SiteQuality
SIO_000300: 9.86e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

DP
type: SiteQuality
SIO_000300: 1.636839e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

GenotypeQuality
all individuals: 36890
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3666
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2671
bin: 7.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10072
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: 11558
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.722958827634333e-5
allele num: 11464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64100
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.021e1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.035e0

FS
type: SiteQuality
SIO_000300: 5.45e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.183e0

DP
type: SiteQuality
SIO_000300: 1.640167e6

GenotypeQuality
all individuals: 991
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36890
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2421
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5600624024961e-5
allele num: 64100
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.035e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

QD
type: SiteQuality
SIO_000300: 1.021e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.183e0

DP
type: SiteQuality
SIO_000300: 1.640167e6

FS
type: SiteQuality
SIO_000300: 5.45e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1956
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.912767644726408e-5
allele num: 10088
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11956
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64188
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.644375e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
type: SiteQuality
SIO_000300: 2.74e0

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

FS
type: SiteQuality
SIO_000300: 1.736e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

GenotypeQuality
all individuals: 349
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.716875871687587e-5
allele num: 11472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10092
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.711582747245908e-4
allele num: 64268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12052
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.81e-1

QD
type: SiteQuality
SIO_000300: 1.222e1

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.45e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.648166e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.17e-1

GenotypeQuality
all individuals: 2860
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64654
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.499625018749062e-5
allele num: 13334
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.661955e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

VQSLOD
type: SiteQuality
SIO_000300: 6.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.036e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.52e-1

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1945
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 8.682062858135092e-5
allele num: 11518
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64944
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.766e0

VQSLOD
type: SiteQuality
SIO_000300: 1.0e-1

FS
type: SiteQuality
SIO_000300: 1.472e0

DP
type: SiteQuality
SIO_000300: 1.672539e6

MQ
type: SiteQuality
SIO_000300: 5.911e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.26e-1

QD
type: SiteQuality
SIO_000300: 1.115e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.95e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65046
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
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: 868
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
type: SiteQuality
SIO_000300: 1.637e1

FS
type: SiteQuality
SIO_000300: 9.6e-1

DP
type: SiteQuality
SIO_000300: 1.676655e6

GenotypeQuality
all individuals: 2060
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1011
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65146
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.848335631278314e-5
allele num: 10154
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14778
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.385e0

MQRankSum
type: SiteQuality
SIO_000300: 8.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.680143e6

QD
type: SiteQuality
SIO_000300: 8.779999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.46e-1

FS
type: SiteQuality
SIO_000300: 9.867000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.63e-1

GenotypeQuality
all individuals: 1942
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 167
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15316
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65360
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.163061177017911e-4
allele num: 8598
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -5.436e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

FS
type: SiteQuality
SIO_000300: 5.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e0

MQ
type: SiteQuality
SIO_000300: 5.977e1

DP
type: SiteQuality
SIO_000300: 1.687878e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.135e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

QD
type: SiteQuality
SIO_000300: 9.130000000000001e0

GenotypeQuality
all individuals: 267
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2695
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39164
bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10136
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15422
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.757e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.5e-1

QD
type: SiteQuality
SIO_000300: 1.199e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.959e1

VQSLOD
type: SiteQuality
SIO_000300: 8.35e-1

DP
type: SiteQuality
SIO_000300: 1.689244e6

GenotypeQuality
all individuals: 265
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9364
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
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: 878
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.454944487477407e-5
allele num: 15492
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65372
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.814e0

MQRankSum
type: SiteQuality
SIO_000300: 1.83e0

FS
type: SiteQuality
SIO_000300: 2.426e0

VQSLOD
type: SiteQuality
SIO_000300: -1.029e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.327e0

DP
type: SiteQuality
SIO_000300: 1.689221e6

QD
type: SiteQuality
SIO_000300: 8.960000000000001e0

GenotypeQuality
all individuals: 370
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variant carriers: 0

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

GenotypeQuality
all individuals: 163
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 80
allele frequency: 1.221933710096227e-3
allele num: 65470
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.272727272727273e-3
allele num: 880
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 70
allele frequency: 1.058361052313275e-2
allele num: 6614
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10134
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15710
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.889e0

DP
type: SiteQuality
SIO_000300: 1.70569e6

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e0

QD
type: SiteQuality
SIO_000300: 1.307e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.484e0

GenotypeQuality
all individuals: 231
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40107
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15952
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65560
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: 10140
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

VQSLOD
type: SiteQuality
SIO_000300: -1.613e-1

DP
type: SiteQuality
SIO_000300: 1.691638e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
SIO_000300: 1.606e1

FS
type: SiteQuality
SIO_000300: 1.558e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1797
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 2468
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 15
allele frequency: 2.285122330215411e-4
allele num: 65642
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
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: 16180
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.695249e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.386e0

MQRankSum
type: SiteQuality
SIO_000300: 2.01e-1

QD
type: SiteQuality
SIO_000300: 1.399e1

FS
type: SiteQuality
SIO_000300: 5.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.47e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-2

GenotypeQuality
all individuals: 2739
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 2.75e1
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GenotypeQuality
all individuals: 351
bin: 8.75e1
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GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 9
allele frequency: 7.797608733321782e-4
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.952569169960474e-4
allele num: 10120
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: 6
allele frequency: 6.787330316742082e-3
allele num: 884
num of homozygotes: 1

South Asian
type: Population
allele count: 34
allele frequency: 2.08896534775129e-3
allele num: 16276
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 129
allele frequency: 1.96568433242922e-3
allele num: 65626
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.74e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.205e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.0e-3

QD
type: SiteQuality
SIO_000300: 1.256e1

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 1.701499e6

GenotypeQuality
all individuals: 63
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40157
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
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GenotypeQuality
all individuals: 2460
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.75e1
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GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.131207847946045e-5
allele num: 16310
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: 11544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10104
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
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Other
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allele frequency: 0.0e0
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QD
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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DP
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FS
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MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeQuality
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variant carriers: 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: 2

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: 0.0e0
allele num: 8610
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 34
allele frequency: 5.179610615154932e-4
allele num: 65642
num of homozygotes: 0

Latino
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allele frequency: 4.588744588744589e-3
allele num: 11550
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African
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allele frequency: 1.010081043684523e-1
allele num: 10118
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Other
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allele frequency: 1.01123595505618e-2
allele num: 890
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QD
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BaseQRankSum
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MQ
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MQRankSum
type: SiteQuality
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FS
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ClippingRankSum
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DP
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InbreedingCoeff
type: SiteQuality
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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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variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.048129972262017e-5
allele num: 65614
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10084
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East Asian
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allele frequency: 0.0e0
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Other
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QD
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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FS
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BaseQRankSum
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ReadPosRankSum
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DP
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MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
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SIO_000300: 4.86e-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 (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11554
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Other
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10078
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.523972080831479e-5
allele num: 65618
num of homozygotes: 0

South Asian
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num of homozygotes: 0

FS
type: SiteQuality
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DP
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VQSLOD
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ClippingRankSum
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MQRankSum
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BaseQRankSum
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MQ
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ReadPosRankSum
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

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

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

Latino
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allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10078
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65642
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-2

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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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allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.52401853206535e-5
allele num: 65616
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10072
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 6.108735491753207e-5
allele num: 16370
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8612
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10084
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65652
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Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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African
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.523414886810274e-5
allele num: 65642
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
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ReadPosRankSum
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FS
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QD
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ClippingRankSum
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MQ
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MQRankSum
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InbreedingCoeff
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DP
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VQSLOD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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European (Finnish)
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East Asian
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European (Non-Finnish)
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allele frequency: 1.523600572873815e-5
allele num: 65634
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Other
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VQSLOD
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MQRankSum
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ReadPosRankSum
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FS
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MQ
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InbreedingCoeff
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QD
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BaseQRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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num of homozygotes: 0

East Asian
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South Asian
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allele num: 16380
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European (Finnish)
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African
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Other
type: Population
allele count: 0
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Latino
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BaseQRankSum
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQRankSum
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MQ
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FS
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VQSLOD
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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European (Finnish)
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Other
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Latino
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African
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East Asian
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DP
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ReadPosRankSum
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QD
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InbreedingCoeff
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MQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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FS
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BaseQRankSum
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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
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Latino
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East Asian
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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 3.65742151782993e-4
allele num: 65620
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.653241e6

MQRankSum
type: SiteQuality
SIO_000300: 4.14e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

QD
type: SiteQuality
SIO_000300: 1.402e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.14e0

FS
type: SiteQuality
SIO_000300: 1.983e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.05e0

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

GenotypeQuality
all individuals: 2445
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 347
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9601
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523600572873815e-5
allele num: 65634
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10080
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 9.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.332e0

QD
type: SiteQuality
SIO_000300: 1.208e1

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.72e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

DP
type: SiteQuality
SIO_000300: 1.651711e6

GenotypeQuality
all individuals: 2748
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 989
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 126
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40605
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 803
bin: 9.75e1
variant carriers: 1

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: 10060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524808636516117e-5
allele num: 65582
num of homozygotes: 0

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.65e-1

FS
type: SiteQuality
SIO_000300: 2.287e0

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.86e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 1.647143e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.59e-1

GenotypeQuality
all individuals: 297
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2633
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39637
bin: 6.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.075598203850649e-5
allele num: 65028
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 1.621e0

DP
type: SiteQuality
SIO_000300: 1.620264e6

QD
type: SiteQuality
SIO_000300: 1.584e1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-2

GenotypeQuality
all individuals: 760
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 888
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8826
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 595
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.072382803011902e-5
allele num: 16468
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

QD
type: SiteQuality
SIO_000300: 1.297e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

DP
type: SiteQuality
SIO_000300: 1.601675e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

FS
type: SiteQuality
SIO_000300: 1.258e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.713e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

GenotypeQuality
all individuals: 811
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 304
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.126367785906334e-5
allele num: 63972
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9404
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

QD
type: SiteQuality
SIO_000300: 1.218e1

MQRankSum
type: SiteQuality
SIO_000300: 1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.055e0

MQ
type: SiteQuality
SIO_000300: 5.883e1

VQSLOD
type: SiteQuality
SIO_000300: -6.2e-1

FS
type: SiteQuality
SIO_000300: 1.141e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.59e-1

DP
type: SiteQuality
SIO_000300: 1.596221e6

GenotypeQuality
all individuals: 612
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38682
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.244671251205775e-4
allele num: 64274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9514
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.158e0

QD
type: SiteQuality
SIO_000300: 1.26e1

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.584282e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.14e-1

GenotypeQuality
all individuals: 803
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2177
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 872
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8619
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 292
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.406557684493483e-4
allele num: 63986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.094059405940594e-4
allele num: 6464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9468
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11490
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

FS
type: SiteQuality
SIO_000300: 1.862e0

QD
type: SiteQuality
SIO_000300: 1.262e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.16e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

DP
type: SiteQuality
SIO_000300: 1.581544e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.0e-1

GenotypeQuality
all individuals: 39938
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8758
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 867
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546551190844417e-5
allele num: 64660
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9700
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.094e1

FS
type: SiteQuality
SIO_000300: 2.332e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 1.57576e6

MQRankSum
type: SiteQuality
SIO_000300: -2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

GenotypeQuality
all individuals: 261
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8654
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2451
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2103
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 822
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64796
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: 882
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9766
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.574807e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.001e1

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.320000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

GenotypeQuality
all individuals: 238
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 240
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 679
bin: 9.75e1
variant carriers: 1

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.019160211985324e-4
allele num: 9812
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64882
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.56e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.59e-1

FS
type: SiteQuality
SIO_000300: 5.103e0

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

DP
type: SiteQuality
SIO_000300: 1.575128e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 1.452e1

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-2

GenotypeQuality
all individuals: 522
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2405
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 672
bin: 9.75e1
variant carriers: 4

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

GenotypeQuality
all individuals: 787
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.011531458628363e-4
allele num: 9886
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: 888
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.618368792142615e-5
allele num: 64958
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.64e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.9e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.85e-1

DP
type: SiteQuality
SIO_000300: 1.576113e6

VQSLOD
type: SiteQuality
SIO_000300: 3.67e0

FS
type: SiteQuality
SIO_000300: 1.318e0

QD
type: SiteQuality
SIO_000300: 1.264e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
all individuals: 182
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.537562655678219e-5
allele num: 65038
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9950
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -5.53e-1

FS
type: SiteQuality
SIO_000300: 6.795e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

DP
type: SiteQuality
SIO_000300: 1.577524e6

QD
type: SiteQuality
SIO_000300: 1.524e1

VQSLOD
type: SiteQuality
SIO_000300: -1.027e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.74e-1

MQ
type: SiteQuality
SIO_000300: 5.741e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 645
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.530175052025952e-5
allele num: 65352
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10098
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.580633e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.83e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.357e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.135e0

QD
type: SiteQuality
SIO_000300: 1.604e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

FS
type: SiteQuality
SIO_000300: 1.373e0

MQ
type: SiteQuality
SIO_000300: 5.932e1

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
all individuals: 757
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variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 3.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.529800514012973e-5
allele num: 65368
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 7.583e0

DP
type: SiteQuality
SIO_000300: 1.580929e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.564e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

QD
type: SiteQuality
SIO_000300: 1.191e1

MQ
type: SiteQuality
SIO_000300: 5.877e1

VQSLOD
type: SiteQuality
SIO_000300: -1.26e0

MQRankSum
type: SiteQuality
SIO_000300: -2.95e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.224e0

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
all individuals: 2365
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variant carriers: 0

GenotypeQuality
all individuals: 640
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528631263566603e-5
allele num: 65418
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10118
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 890
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.216e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.82e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.447e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.667e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.13e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.581577e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.449e0

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
all individuals: 641
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variant carriers: 3

GenotypeQuality
all individuals: 738
bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10122
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65452
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.816860465116279e-4
allele num: 16512
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.909e0

DP
type: SiteQuality
SIO_000300: 1.582915e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 3.149e0

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

QD
type: SiteQuality
SIO_000300: 1.382e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 199
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 189
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variant carriers: 0

GenotypeQuality
all individuals: 2316
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variant carriers: 0

GenotypeQuality
all individuals: 634
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65618
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10152
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 8.332000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 1.35e-1

DP
type: SiteQuality
SIO_000300: 1.589427e6

QD
type: SiteQuality
SIO_000300: 1.434e1

MQRankSum
type: SiteQuality
SIO_000300: -8.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.794e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.169999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 179
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 718
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variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.523554147114388e-5
allele num: 65636
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 6.35e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.589819e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.57e0

VQSLOD
type: SiteQuality
SIO_000300: -3.166e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

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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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8608
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10158
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
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Latino
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allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 6.05766900896535e-5
allele num: 16508
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65644
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.181e0

QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.590468e6

ReadPosRankSum
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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South Asian
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allele num: 16508
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.046736944732192e-5
allele num: 65644
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6600
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East Asian
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allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
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QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
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SIO_000300: 1.590906e6

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

Latino
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allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

African
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East Asian
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allele num: 8612
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South Asian
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allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65648
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 2
allele frequency: 2.321801718133271e-4
allele num: 8614
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6602
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African
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65734
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Other
type: Population
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allele num: 894
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.29e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
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ClippingRankSum
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SIO_000300: -1.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.15e-1

GenotypeQuality
all individuals: 182
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2314
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 626
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8657
bin: 6.75e1
variant carriers: 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: 10180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.563848236833298e-5
allele num: 65734
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
type: SiteQuality
SIO_000300: 3.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.556e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.39e-1

FS
type: SiteQuality
SIO_000300: 2.684e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

DP
type: SiteQuality
SIO_000300: 1.59554e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.028e0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8683
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1909
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 715
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44344
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0