7-70246661-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246661
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246661
    reference: chr 7
allele count: 3
allele frequency: 2.471454698235381e-5
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.1993C>T
  hgvsp: ENSP00000385263.2:p.Arg665Cys
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2065C>T
  hgvsp: ENSP00000344087.4:p.Arg689Cys
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.33C>T
  hgvsp: ENSP00000400227.1:p.Arg12Cys
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000464768
  gene symbol: AUTS2
  hgvsc: ENST00000464768.1:n.731C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*18C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.433C>T
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41777
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1204
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8582
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg689Cys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

7-70246662-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246662
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246662
    reference: chr 7
allele count: 7
allele frequency: 5.76710771309463e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.34G>A
  hgvsp: ENSP00000400227.1:p.Arg12His
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2066G>A
  hgvsp: ENSP00000344087.4:p.Arg689His
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*19G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000464768
  gene symbol: AUTS2
  hgvsc: ENST00000464768.1:n.732G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.1994G>A
  hgvsp: ENSP00000385263.2:p.Arg665His
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.434G>A
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3937
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3325
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg689His
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum

7-70246663-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246663
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246663
    reference: chr 7
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.435C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.1995C>T
  hgvsp: ENST00000406775.2:c.1995C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2067C>T
  hgvsp: ENST00000342771.4:c.2067C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.35C>T
  hgvsp: ENST00000449547.1:c.35C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000464768
  gene symbol: AUTS2
  hgvsc: ENST00000464768.1:n.733C>T
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg689Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

7-70246664-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246664
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246664
    reference: chr 7
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.1996C>G
  hgvsp: ENSP00000385263.2:p.Pro666Ala
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*21C>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2068C>G
  hgvsp: ENSP00000344087.4:p.Pro690Ala
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000464768
  gene symbol: AUTS2
  hgvsc: ENST00000464768.1:n.734C>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.36C>G
  hgvsp: ENSP00000400227.1:p.Pro13Ala
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.436C>G
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro690Ala
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

7-70246664-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246664
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246664
    reference: chr 7
allele count: 15
allele frequency: 1.235768071048426e-4
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000464768
  gene symbol: AUTS2
  hgvsc: ENST00000464768.1:n.734C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.36C>T
  hgvsp: ENSP00000400227.1:p.Pro13Ser
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2068C>T
  hgvsp: ENSP00000344087.4:p.Pro690Ser
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.1996C>T
  hgvsp: ENSP00000385263.2:p.Pro666Ser
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.436C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*21C>T
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6388
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1946
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8579
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro690Ser
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: FS

7-70246692-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246692
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246692
    reference: chr 7
allele count: 2
allele frequency: 1.648233917357551e-5
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.64T>C
  hgvsp: ENSP00000400227.1:p.Ile22Thr
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*49T>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.464T>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2096T>C
  hgvsp: ENSP00000344087.4:p.Ile699Thr
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2024T>C
  hgvsp: ENSP00000385263.2:p.Ile675Thr
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2032
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6463
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 945
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2036
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8548
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41771
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ile699Thr
num of homozygotes: 1
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

7-70246693-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246693
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246693
    reference: chr 7
allele count: 13
allele frequency: 1.071405024065405e-4
allele num: 121336
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2025C>T
  hgvsp: ENST00000406775.2:c.2025C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*50C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.65C>T
  hgvsp: ENST00000449547.1:c.65C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2097C>T
  hgvsp: ENST00000342771.4:c.2097C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.465C>T
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6462
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6392
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5452
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8509
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41771
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ile699Ile
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

7-70246694-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246694
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246694
    reference: chr 7
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.466C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2026C>T
  hgvsp: ENSP00000385263.2:p.His676Tyr
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*51C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.66C>T
  hgvsp: ENSP00000400227.1:p.His23Tyr
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2098C>T
  hgvsp: ENSP00000344087.4:p.His700Tyr
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2982
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1415
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 892
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41771
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.His700Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

7-70246699-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246699
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246699
    reference: chr 7
allele count: 4
allele frequency: 3.297011259293451e-5
allele num: 121322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2031C>G
  hgvsp: ENSP00000385263.2:p.His677Gln
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.71C>G
  hgvsp: ENSP00000400227.1:p.His24Gln
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*56C>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.471C>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2103C>G
  hgvsp: ENSP00000344087.4:p.His701Gln
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4715
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3929
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6392
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8498
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His701Gln
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-70246702-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246702
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246702
    reference: chr 7
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2106C>T
  hgvsp: ENST00000342771.4:c.2106C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.74C>T
  hgvsp: ENST00000449547.1:c.74C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2034C>T
  hgvsp: ENST00000406775.2:c.2034C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*59C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.474C>T
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3855
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6909
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3927
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1940
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8495
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro702Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

7-70246712-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246712
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246712
    reference: chr 7
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2044G>A
  hgvsp: ENSP00000385263.2:p.Ala682Thr
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.484G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2116G>A
  hgvsp: ENSP00000344087.4:p.Ala706Thr
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.84G>A
  hgvsp: ENSP00000400227.1:p.Ala29Thr
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*69G>A
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3931
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41767
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1939
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8377
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala706Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

7-70246715-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246715
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246715
    reference: chr 7
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2119C>T
  hgvsp: ENSP00000344087.4:p.Arg707Trp
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.87C>T
  hgvsp: ENSP00000400227.1:p.Arg30Trp
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2047C>T
  hgvsp: ENSP00000385263.2:p.Arg683Trp
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.487C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*72C>T
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3801
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1998
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41767
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8299
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg707Trp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum

7-70246716-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246716
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246716
    reference: chr 7
allele count: 2
allele frequency: 1.649892756970797e-5
allele num: 121220
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.488G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2120G>A
  hgvsp: ENSP00000344087.4:p.Arg707Gln
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2048G>A
  hgvsp: ENSP00000385263.2:p.Arg683Gln
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*73G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.88G>A
  hgvsp: ENSP00000400227.1:p.Arg30Gln
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6397
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6912
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5343
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1990
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg707Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

7-70246727-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246727
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246727
    reference: chr 7
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2059T>G
  hgvsp: ENSP00000385263.2:p.Leu687Val
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2131T>G
  hgvsp: ENSP00000344087.4:p.Leu711Val
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.99T>G
  hgvsp: ENSP00000400227.1:p.Leu34Val
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*84T>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.499T>G
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3777
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3298
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2483
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8070
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 880
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1700
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu711Val
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS

7-70246736-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246736
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246736
    reference: chr 7
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.108G>A
  hgvsp: ENSP00000400227.1:p.Ala37Thr
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2140G>A
  hgvsp: ENSP00000344087.4:p.Ala714Thr
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2068G>A
  hgvsp: ENSP00000385263.2:p.Ala690Thr
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*93G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.508G>A
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 660
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6396
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5455
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3915
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1873
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41766
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7388
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala714Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

7-70246738-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246738
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246738
    reference: chr 7
allele count: 3
allele frequency: 2.486490070616318e-5
allele num: 120652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*95C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2070C>T
  hgvsp: ENST00000406775.2:c.2070C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.510C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2142C>T
  hgvsp: ENST00000342771.4:c.2142C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.110C>T
  hgvsp: ENST00000449547.1:c.110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5339
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3917
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 729
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2031
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3856
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1686
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41766
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1865
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1205
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala714Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

7-70246753-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246753
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246753
    reference: chr 7
allele count: 1
allele frequency: 8.323068215867098e-6
allele num: 120148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.514+11G>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*99+11G>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2074+11G>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2146+11G>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.114+11G>T
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5333
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6394
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6910
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41763
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1618
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6080
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

7-70246756-TGGGTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246756
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246751
    reference: chr 7
allele count: 1
allele frequency: 8.329307501374335e-6
allele num: 120058
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*99+18_*99+22delTGGGG
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.514+18_514+22delTGGGG
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2074+18_2074+22delTGGGG
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2146+18_2146+22delTGGGG
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.114+18_114+22delTGGGG
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3878
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5832
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1610
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1924
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: TGGGTG
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

7-70246757-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246757
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246757
    reference: chr 7
allele count: 1
allele frequency: 8.333611120370679e-6
allele num: 119996
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.114+15G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2146+15G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2074+15G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*99+15G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.514+15G>A
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6465
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1923
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5710
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

7-70246760-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246760
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246759
    reference: chr 7
allele count: 3
allele frequency: 2.502627759147104e-5
allele num: 119874
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*99+24delG
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.514+24delG
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2074+24delG
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.114+24delG
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2146+24delG
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3875
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5454
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6466
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5332
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41762
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1885
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 811
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1921
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5326
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: TG
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

7-70246761-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246761
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246761
    reference: chr 7
allele count: 306
allele frequency: 2.554512972918823e-3
allele num: 119788
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2146+19G>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2074+19G>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.514+19G>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*99+19G>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.114+19G>C
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 2.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 2.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 9.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 7.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 6910
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 8.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2475
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 4
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

7-70246761-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246761
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246761
    reference: chr 7
allele count: 2
allele frequency: 1.669616322169166e-5
allele num: 119788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.514+19G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*99+19G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2074+19G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.114+19G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2146+19G>A
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41881
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1916
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

7-70246761-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246761
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246761
    reference: chr 7
allele count: 5
allele frequency: 4.174040805422914e-5
allele num: 119788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*99+19G>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.114+19G>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.514+19G>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2074+19G>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2146+19G>T
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6457
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4177
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2781
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6910
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6393
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2106
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41881
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1922
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

7-70246762-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246762
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246762
    reference: chr 7
allele count: 1
allele frequency: 8.353521009105338e-6
allele num: 119710
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2146+20G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2074+20G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*99+20G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.114+20G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.514+20G>A
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5340
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6474
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2694
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1927
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4919
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

7-70246764-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246764
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246764
    reference: chr 7
allele count: 1
allele frequency: 8.353102342209896e-6
allele num: 119716
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2074+22G>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*99+22G>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2146+22G>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.114+22G>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.514+22G>C
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6409
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2632
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5338
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5443
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2482
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1206
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1535
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-70246780-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246780
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246780
    reference: chr 7
allele count: 1
allele frequency: 8.404067568703253e-6
allele num: 118990
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*99+38A>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.514+38A>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2074+38A>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.114+38A>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2146+38A>G
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6478
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3026
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5327
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41718
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2481
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 785
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1626
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

7-70246793-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246793
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246793
    reference: chr 7
allele count: 1
allele frequency: 8.472996559963397e-6
allele num: 118022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.514+51G>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2146+51G>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2074+51G>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*99+51G>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.114+51G>C
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3755
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5293
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6389
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1904
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41709
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-70246794-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70246794
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70246794
    reference: chr 7
allele count: 1
allele frequency: 8.480181815098116e-6
allele num: 117922
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2074+52T>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2146+52T>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*99+52T>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.114+52T>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.514+52T>C
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6388
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6917
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6475
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3737
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5442
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 915
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 751
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1613
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1662
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2484
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

7-70249879-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249879
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249879
    reference: chr 7
allele count: 7
allele frequency: 5.875933853773189e-5
allele num: 119130
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.115-49C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2075-49C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*100-49C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2147-49C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.515-49C>T
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9974
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1559
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5112
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12329
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16565
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1012
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8363
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1804
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6515
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2920
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4068
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4071
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1985
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4266
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

7-70249880-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249880
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249880
    reference: chr 7
allele count: 1
allele frequency: 8.384759860477596e-6
allele num: 119264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.115-48G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2147-48G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*100-48G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.515-48G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2075-48G>A
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7789
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18442
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12577
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1870
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2987
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 2482
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genotype quality: GenotypeQuality
  all individuals: 850
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
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genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 8368
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3694
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2759
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ

7-70249887-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249887
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249887
    reference: chr 7
allele count: 1
allele frequency: 8.358268835358821e-6
allele num: 119642
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.515-41G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*100-41G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2147-41G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2075-41G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.115-41G>A
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1952
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3113
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1634
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 312
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8415
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

7-70249888-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249888
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249887
    reference: chr 7
allele count: 1
allele frequency: 8.356732183446986e-6
allele num: 119664
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2075-35delT
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2147-35delT
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*100-35delT
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.115-35delT
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.515-35delT
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3117
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 909
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3096
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24321
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1350
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1492
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8421
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: CT
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

7-70249901-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249901
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249901
    reference: chr 7
allele count: 1
allele frequency: 8.298479718515568e-6
allele num: 120504
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.515-27C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2147-27C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.115-27C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*100-27C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2075-27C>T
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1156
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27595
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7514
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4474
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28041
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3303
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7808
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD

7-70249904-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249904
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249904
    reference: chr 7
allele count: 97
allele frequency: 8.037785880013258e-4
allele num: 120680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*100-24G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.515-24G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.115-24G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2147-24G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2075-24G>A
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 4.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 14829
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3169
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 6.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 27631
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

7-70249908-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249908
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249908
    reference: chr 7
allele count: 20072
allele frequency: 1.660517215705091e-1
allele num: 120878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2075-20C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*100-20C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.115-20C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2147-20C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.515-20C>T
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 4.75e1
  variant carriers: 2328
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 9.75e1
  variant carriers: 984
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 150
genotype depth: GenotypeDepth
  all individuals: 12224
  bin: 2.75e1
  variant carriers: 1151
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 8.75e1
  variant carriers: 161
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 7.75e1
  variant carriers: 259
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 6.25e1
  variant carriers: 926
genotype depth: GenotypeDepth
  all individuals: 7378
  bin: 3.25e1
  variant carriers: 1871
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.25e1
  variant carriers: 373
genotype depth: GenotypeDepth
  all individuals: 19334
  bin: 2.25e1
  variant carriers: 471
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 5.75e1
  variant carriers: 1296
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4863
  bin: 3.75e1
  variant carriers: 2493
genotype depth: GenotypeDepth
  all individuals: 2390
  bin: 5.25e1
  variant carriers: 1941
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 8.25e1
  variant carriers: 198
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 6.75e1
  variant carriers: 579
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 9.25e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 4.25e1
  variant carriers: 2603
genotype quality: GenotypeQuality
  all individuals: 2977
  bin: 7.75e1
  variant carriers: 65
genotype quality: GenotypeQuality
  all individuals: 22874
  bin: 9.75e1
  variant carriers: 17385
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 5.25e1
  variant carriers: 24
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 9.25e1
  variant carriers: 92
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 2.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 4.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 21451
  bin: 6.25e1
  variant carriers: 48
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 7.25e1
  variant carriers: 36
num of homozygotes: 2155
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

7-70249909-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249909
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249909
    reference: chr 7
allele count: 10
allele frequency: 8.257365570088519e-5
allele num: 121104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.115-19G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*100-19G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2075-19G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2147-19G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.515-19G>A
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9700
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18015
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3302
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1893
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7993
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4440
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff

7-70249913-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249913
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249913
    reference: chr 7
allele count: 2
allele frequency: 1.650219479190732e-5
allele num: 121196
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2147-15T>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.515-15T>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.115-15T>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2075-15T>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*100-15T>C
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4201
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9671
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29463
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8426
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8014
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

7-70249930-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249930
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249930
    reference: chr 7
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2077G>A
  hgvsp: ENSP00000385263.2:p.Ala693Thr
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*102G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.117G>A
  hgvsp: ENSP00000400227.1:p.Ala40Thr
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2149G>A
  hgvsp: ENSP00000344087.4:p.Ala717Thr
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.517G>A
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18313
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9689
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala717Thr
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-70249937-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249937
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249937
    reference: chr 7
allele count: 1
allele frequency: 8.239675686364985e-6
allele num: 121364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.124A>G
  hgvsp: ENSP00000400227.1:p.His42Arg
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.524A>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*109A>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2084A>G
  hgvsp: ENSP00000385263.2:p.His695Arg
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2156A>G
  hgvsp: ENSP00000344087.4:p.His719Arg
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21134
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4196
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His719Arg
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-70249939-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249939
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249939
    reference: chr 7
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2158C>T
  hgvsp: ENSP00000344087.4:p.Pro720Ser
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2086C>T
  hgvsp: ENSP00000385263.2:p.Pro696Ser
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.126C>T
  hgvsp: ENSP00000400227.1:p.Pro43Ser
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*111C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.526C>T
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18371
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8048
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4440
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro720Ser
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/7-70249940-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249940
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249940
    reference: chr 7
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.127C>A
  hgvsp: ENSP00000400227.1:p.Pro43Gln
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2087C>A
  hgvsp: ENSP00000385263.2:p.Pro696Gln
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2159C>A
  hgvsp: ENSP00000344087.4:p.Pro720Gln
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.527C>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*112C>A
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9699
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4440
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1443
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro720Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

7-70249947-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249947
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249947
    reference: chr 7
allele count: 1
allele frequency: 8.238182327451271e-6
allele num: 121386
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.534G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*119G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2094G>A
  hgvsp: ENST00000406775.2:c.2094G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.134G>A
  hgvsp: ENST00000449547.1:c.134G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2166G>A
  hgvsp: ENST00000342771.4:c.2166G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly722Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

7-70249947-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249947
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249947
    reference: chr 7
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2166G>T
  hgvsp: ENST00000342771.4:c.2166G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2094G>T
  hgvsp: ENST00000406775.2:c.2094G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.134G>T
  hgvsp: ENST00000449547.1:c.134G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.534G>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*119G>T
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3192
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8047
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29901
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1890
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly722Gly
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-70249948-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249948
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249948
    reference: chr 7
allele count: 2
allele frequency: 1.647636465490254e-5
allele num: 121386
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.135A>T
  hgvsp: ENSP00000400227.1:p.Thr46Ser
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*120A>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2167A>T
  hgvsp: ENSP00000344087.4:p.Thr723Ser
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2095A>T
  hgvsp: ENSP00000385263.2:p.Thr699Ser
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.535A>T
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9715
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21128
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8049
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3320
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8399
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Thr723Ser
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

7-70249961-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249961
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249961
    reference: chr 7
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2108C>T
  hgvsp: ENSP00000385263.2:p.Pro703Leu
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.148C>T
  hgvsp: ENSP00000400227.1:p.Pro50Leu
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*133C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.548C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2180C>T
  hgvsp: ENSP00000344087.4:p.Pro727Leu
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8396
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro727Leu
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

7-70249962-ACCT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249962
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249959
    reference: chr 7
allele count: 13
allele frequency: 1.070875481893967e-4
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.554_556delCTC
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2186_2188delCTC
  hgvsp: ENSP00000344087.4:p.Pro729del
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.154_156delCTC
  hgvsp: ENSP00000400227.1:p.Pro52del
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*139_*141delCTC
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2114_2116delCTC
  hgvsp: ENSP00000385263.2:p.Pro705del
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21098
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8398
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3185
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Pro729del
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: ACCT
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum

7-70249974-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249974
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249974
    reference: chr 7
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2193C>T
  hgvsp: ENST00000342771.4:c.2193C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2121C>T
  hgvsp: ENST00000406775.2:c.2121C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.161C>T
  hgvsp: ENST00000449547.1:c.161C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.561C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*146C>T
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9712
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21071
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8386
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8059
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4437
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29939
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3183
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.His731His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/7-70249978-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249978
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249978
    reference: chr 7
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.165A>C
  hgvsp: ENSP00000400227.1:p.Asn56His
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2125A>C
  hgvsp: ENSP00000385263.2:p.Asn709His
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*150A>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2197A>C
  hgvsp: ENSP00000344087.4:p.Asn733His
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.565A>C
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9708
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4197
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8387
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4436
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asn733His
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

7-70249980-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249980
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249980
    reference: chr 7
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2127C>T
  hgvsp: ENST00000406775.2:c.2127C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2199C>T
  hgvsp: ENST00000342771.4:c.2199C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.167C>T
  hgvsp: ENST00000449547.1:c.167C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.567C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*152C>T
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
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genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
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genotype depth: GenotypeDepth
  all individuals: 2136
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genotype depth: GenotypeDepth
  all individuals: 18478
  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1437
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
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genotype quality: GenotypeQuality
  all individuals: 3314
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genotype quality: GenotypeQuality
  all individuals: 3180
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1892
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genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn733Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

7-70249989-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249989
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249989
    reference: chr 7
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2208C>T
  hgvsp: ENST00000342771.4:c.2208C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2136C>T
  hgvsp: ENST00000406775.2:c.2136C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.176C>T
  hgvsp: ENST00000449547.1:c.176C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*161C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.576C>T
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4198
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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genotype quality: GenotypeQuality
  all individuals: 3180
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8043
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn736Asn
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD

7-70249991-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249991
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249991
    reference: chr 7
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2210C>T
  hgvsp: ENSP00000344087.4:p.Pro737Leu
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2138C>T
  hgvsp: ENSP00000385263.2:p.Pro713Leu
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*163C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.578C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.178C>T
  hgvsp: ENSP00000400227.1:p.Pro60Leu
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9709
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3312
  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8038
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro737Leu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

7-70249994-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70249994
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70249994
    reference: chr 7
allele count: 13
allele frequency: 1.071157839227448e-4
allele num: 121364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.181C>T
  hgvsp: ENSP00000400227.1:p.Ala61Val
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2213C>T
  hgvsp: ENSP00000344087.4:p.Ala738Val
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.581C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*166C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2141C>T
  hgvsp: ENSP00000385263.2:p.Ala714Val
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20991
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29893
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3305
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1892
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4433
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1435
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala738Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS

7-70250012-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70250012
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70250012
    reference: chr 7
allele count: 4
allele frequency: 3.299458888742246e-5
allele num: 121232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.192+7C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2152+7C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*177+7C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2224+7C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.592+7C>T
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18384
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4183
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7964
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3268
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29378
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1888
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1432
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8381
  bin: 9.75e1
  variant carriers: 4
hgvs: c.2224+7C>T
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ

7-70250013-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70250013
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70250013
    reference: chr 7
allele count: 7
allele frequency: 5.775482252768106e-5
allele num: 121202
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2224+8G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2152+8G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.192+8G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*177+8G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.592+8G>A
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20566
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4187
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18396
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7937
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.25e1
  variant carriers: 0
hgvs: c.2224+8G>A
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/7-70250017-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70250017
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70250017
    reference: chr 7
allele count: 1
allele frequency: 8.251914444151043e-6
allele num: 121184
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*177+12A>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.192+12A>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2152+12A>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.592+12A>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2224+12A>C
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4366
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1427
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7922
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1880
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29197
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8359
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

7-70250024-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70250024
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70250024
    reference: chr 7
allele count: 7
allele frequency: 5.780633227079789e-5
allele num: 121094
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.592+19T>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2224+19T>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2152+19T>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*177+19T>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.192+19T>C
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4151
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19890
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28418
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3136
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-70250027-G-GAAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70250027
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70250030
    reference: chr 7
allele count: 1
allele frequency: 8.260503229856763e-6
allele num: 121058
alternate allele: GAAC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.192+23_192+25dupAAC
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.592+23_592+25dupAAC
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*177+23_*177+25dupAAC
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2224+23_2224+25dupAAC
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2152+23_2152+25dupAAC
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19473
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27748
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1872
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-70250027-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70250027
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70250026
    reference: chr 7
allele count: 2
allele frequency: 1.652100645971353e-5
allele num: 121058
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2224+24delA
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*177+24delA
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.192+24delA
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2152+24delA
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.592+24delA
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18071
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19473
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4326
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3200
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3125
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27748
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 603
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7700
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: GA
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ

7-70250031-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70250031
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70250031
    reference: chr 7
allele count: 1
allele frequency: 8.262414277451872e-6
allele num: 121030
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2152+26T>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.592+26T>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.192+26T>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*177+26T>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2224+26T>G
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4110
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7573
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3176
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8350
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

7-70250036-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70250036
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70250036
    reference: chr 7
allele count: 2
allele frequency: 1.652892561983471e-5
allele num: 121000
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*177+31T>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2152+31T>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2224+31T>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.192+31T>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.592+31T>G
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18164
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1988
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 926
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3145
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1867
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1178
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7476
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

7-70250039-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70250039
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70250039
    reference: chr 7
allele count: 21
allele frequency: 1.736312073156615e-4
allele num: 120946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.192+34G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*177+34G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2224+34G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.592+34G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2152+34G>A
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4073
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9043
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 16614
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4158
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3105
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 765
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23689
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8359
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3083
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 833
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/7-70250042-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70250042
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70250042
    reference: chr 7
allele count: 1
allele frequency: 8.271435424903638e-6
allele num: 120898
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.192+37C>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*177+37C>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2152+37C>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.592+37C>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2224+37C>A
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5608
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8827
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4205
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1861
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8338
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7045
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1475
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1413
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3062
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 897
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

7-70250043-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70250043
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70250043
    reference: chr 7
allele count: 1
allele frequency: 8.269793751343841e-6
allele num: 120922
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2152+38T>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.592+38T>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*177+38T>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.192+38T>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2224+38T>C
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4049
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8756
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2093
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16038
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8339
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7069
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1747
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4212
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22090
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1142
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD

7-70250047-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70250047
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70250047
    reference: chr 7
allele count: 2
allele frequency: 1.655601728448204e-5
allele num: 120802
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2152+42G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*177+42G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.592+42G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.192+42G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2224+42G>A
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14814
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1599
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6840
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8338
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 19341
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3036
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1978
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

7-70250049-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70250049
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70250049
    reference: chr 7
allele count: 1
allele frequency: 8.286102548805144e-6
allele num: 120684
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2224+44C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*177+44C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.592+44C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.192+44C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2152+44C>T
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4021
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14337
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17186
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17777
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2880
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1781
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3025
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8332
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6715
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4099
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3008
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD

7-70250053-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70250053
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70250053
    reference: chr 7
allele count: 1
allele frequency: 8.294349888855711e-6
allele num: 120564
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2224+48C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.192+48C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.592+48C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*177+48C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2152+48C>T
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2083
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8100
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13841
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3851
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2990
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 706
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1862
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genotype quality: GenotypeQuality
  all individuals: 15432
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1401
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1152
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum

7-70250365-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70250365
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70250365
    reference: chr 7
allele count: 1
allele frequency: 6.114711997064938e-5
allele num: 16354
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2224+360C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*177+360C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2152+360C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.592+360C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.192+360C>T
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2610
  bin: 2.25e1
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genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 2622
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 657
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genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 954
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

7-70250376-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70250376
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70250376
    reference: chr 7
allele count: 5
allele frequency: 3.045437933974906e-4
allele num: 16418
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*177+371C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2224+371C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.592+371C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.192+371C>T
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2152+371C>T
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2770
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 960
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3741
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2581
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

7-70250377-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70250377
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70250377
    reference: chr 7
allele count: 1
allele frequency: 6.082725060827251e-5
allele num: 16440
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.592+372G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.192+372G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2224+372G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*177+372G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2152+372G>A
  variant of: http://identifiers.org/hgnc/14262
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3087
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-70250414-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70250414
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70250414
    reference: chr 7
allele count: 1
allele frequency: 6.04814322003145e-5
allele num: 16534
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.192+409T>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.592+409T>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2224+409T>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*177+409T>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000392333
  ensembl transcript: ENST00000418686
  gene symbol: AUTS2
  hgvsc: ENST00000418686.1:c.20T>C
  hgvsp: ENSP00000392333.1:p.Ile7Thr
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2152+409T>C
  variant of: http://identifiers.org/hgnc/14262
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2769
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2465
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile7Thr
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

7-70250433-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70250433
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70250433
    reference: chr 7
allele count: 15
allele frequency: 9.087604507451836e-4
allele num: 16506
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.592+428G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*177+428G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2224+428G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000392333
  ensembl transcript: ENST00000418686
  gene symbol: AUTS2
  hgvsc: ENST00000418686.1:c.39G>A
  hgvsp: ENST00000418686.1:c.39G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.192+428G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2152+428G>A
  variant of: http://identifiers.org/hgnc/14262
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4094
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2384
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro13Pro
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

7-70250435-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70250435
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70250435
    reference: chr 7
allele count: 6
allele frequency: 3.632840881569387e-4
allele num: 16516
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2224+430T>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000392333
  ensembl transcript: ENST00000418686
  gene symbol: AUTS2
  hgvsc: ENST00000418686.1:c.41T>G
  hgvsp: ENSP00000392333.1:p.Ile14Arg
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.192+430T>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2152+430T>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*177+430T>G
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.592+430T>G
  variant of: http://identifiers.org/hgnc/14262
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2688
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2233
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2371
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4091
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile14Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

7-70250458-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70250458
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70250458
    reference: chr 7
allele count: 1
allele frequency: 6.075334143377886e-5
allele num: 16460
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*177+453G>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.592+453G>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000392333
  ensembl transcript: ENST00000418686
  gene symbol: AUTS2
  hgvsc: ENST00000418686.1:c.64G>C
  hgvsp: ENSP00000392333.1:p.Glu22Gln
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2152+453G>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2224+453G>C
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.192+453G>C
  variant of: http://identifiers.org/hgnc/14262
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2414
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu22Gln
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

7-70250465-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 70250465
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 70250465
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 16422
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000407058
  ensembl transcript: ENST00000439256
  gene symbol: AUTS2
  hgvsc: ENST00000439256.1:c.*177+460G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000385263
  ensembl transcript: ENST00000406775
  gene symbol: AUTS2
  hgvsc: ENST00000406775.2:c.2152+460G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000392333
  ensembl transcript: ENST00000418686
  gene symbol: AUTS2
  hgvsc: ENST00000418686.1:c.64+7G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl transcript: ENST00000498384
  gene symbol: AUTS2
  hgvsc: ENST00000498384.1:n.592+460G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000400227
  ensembl transcript: ENST00000449547
  gene symbol: AUTS2
  hgvsc: ENST00000449547.1:c.192+460G>A
  variant of: http://identifiers.org/hgnc/14262
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000158321
  ensembl protein: ENSP00000344087
  ensembl transcript: ENST00000342771
  gene symbol: AUTS2
  hgvsc: ENST00000342771.4:c.2224+460G>A
  variant of: http://identifiers.org/hgnc/14262
canonical: false
consequence: splice region
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2124
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
hgvs: c.64+7G>A
num of homozygotes: 0
reference allele: G

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

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1945
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 896
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1723
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496807266840543e-5
allele num: 66714
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: 10406
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.194916e6

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

FS
type: SiteQuality
SIO_000300: 5.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.283e0

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.97e-1

QD
type: SiteQuality
SIO_000300: 1.284e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8563
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1945
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41777
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 895
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.049349403369911e-4
allele num: 66708
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 3.195243e6

QD
type: SiteQuality
SIO_000300: 1.223e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.08e-1

FS
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: -3.25e-1

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

GenotypeQuality
all individuals: 41775
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2037
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1721
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8571
bin: 6.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997961386257345e-5
allele num: 66712
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.61e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

FS
type: SiteQuality
SIO_000300: 8.44e-1

QD
type: SiteQuality
SIO_000300: 1.255e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 5.1e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.14e-1

DP
type: SiteQuality
SIO_000300: 3.194667e6

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8579
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41776
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2481
bin: 9.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.44e0

MQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.33e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.1955e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.941e1

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

GenotypeQuality
all individuals: 1206
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 15

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

East Asian
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allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 14
allele frequency: 1.34563629373318e-3
allele num: 10404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498980693128672e-5
allele num: 66712
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.941e1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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VQSLOD
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BaseQRankSum
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SIO_000300: -6.820000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
SIO_000300: 0.0e0

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: 8654
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66694
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African
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allele frequency: 0.0e0
allele num: 10404
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

South Asian
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allele frequency: 1.212709192335678e-4
allele num: 16492
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MQRankSum
type: SiteQuality
SIO_000300: 2.4e0

FS
type: SiteQuality
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DP
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InbreedingCoeff
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MQ
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SIO_000300: 5.958e1

VQSLOD
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BaseQRankSum
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SIO_000300: 4.11e-1

ClippingRankSum
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SIO_000300: -1.703e0

ReadPosRankSum
type: SiteQuality
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QD
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SIO_000300: 3.087e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
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Other
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 13
allele frequency: 1.502195516524151e-3
allele num: 8654
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16488
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66692
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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MQ
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InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.711e0

DP
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SIO_000300: 3.1946e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11578
num of homozygotes: 0

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

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

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

South Asian
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allele frequency: 0.0e0
allele num: 16490
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FS
type: SiteQuality
SIO_000300: 1.109e0

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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QD
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MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
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SIO_000300: 3.193171e6

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66690
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 4
allele frequency: 3.454828122300915e-4
allele num: 11578
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.251e0

DP
type: SiteQuality
SIO_000300: 3.193052e6

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.989e1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.01e-1

QD
type: SiteQuality
SIO_000300: 9.779999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

GenotypeQuality
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variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
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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: 66686
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.155e0

VQSLOD
type: SiteQuality
SIO_000300: 5.08e-1

MQRankSum
type: SiteQuality
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QD
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.889e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.63e-1

DP
type: SiteQuality
SIO_000300: 3.192604e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQ
type: SiteQuality
SIO_000300: 5.99e1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.500060002400096e-5
allele num: 66664
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.76e-1

DP
type: SiteQuality
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MQ
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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66648
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
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allele frequency: 6.088650754992694e-5
allele num: 16424
num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.500330072615976e-5
allele num: 66652
num of homozygotes: 0

Latino
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Other
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allele num: 906
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African
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

East Asian
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num of homozygotes: 0

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

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

South Asian
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East Asian
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.501140867058965e-5
allele num: 66616
num of homozygotes: 0

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

Latino
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European (Non-Finnish)
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South Asian
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allele num: 16142
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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MQ
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VQSLOD
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BaseQRankSum
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FS
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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DP
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QD
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1934
bin: 8.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
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: 10336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.511685264835925e-5
allele num: 66494
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16090
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.76e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 1.147e1

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.02e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e0

FS
type: SiteQuality
SIO_000300: 4.716e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

DP
type: SiteQuality
SIO_000300: 3.178035e6

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2481
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1663
bin: 7.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
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: 15854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508113651444773e-5
allele num: 66308
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.403e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.158405e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.38e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.345e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

GenotypeQuality
all individuals: 252
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2481
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41763
bin: 9.75e1
variant carriers: 1

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15808
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.742790335151988e-5
allele num: 10264
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: 894
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66286
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 3.154811e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.570000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

MQ
type: SiteQuality
SIO_000300: 5.462e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.618e0

MQRankSum
type: SiteQuality
SIO_000300: -1.984e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

GenotypeQuality
all individuals: 2481
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41762
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1594
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1660
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.509023963300537e-5
allele num: 66268
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15776
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.62e-1

QD
type: SiteQuality
SIO_000300: 1.564e1

FS
type: SiteQuality
SIO_000300: 1.5319e1

VQSLOD
type: SiteQuality
SIO_000300: -2.685e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

MQRankSum
type: SiteQuality
SIO_000300: -1.878e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

DP
type: SiteQuality
SIO_000300: 3.153378e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.387e0

GenotypeQuality
all individuals: 123
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15708
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.596053997923157e-4
allele num: 11556
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: 8628
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10250
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.8e-2

VQSLOD
type: SiteQuality
SIO_000300: 7.84e-1

QD
type: SiteQuality
SIO_000300: 9.449999999999999e0

DP
type: SiteQuality
SIO_000300: 3.148777e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.91e-1

MQ
type: SiteQuality
SIO_000300: 6.035e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.36e-1

FS
type: SiteQuality
SIO_000300: 1.0222e1

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 805
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41881
bin: 9.75e1
variant carriers: 299

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

Latino
type: Population
allele count: 3
allele frequency: 2.598302442404296e-4
allele num: 11546
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.024803387779795e-4
allele num: 6612
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.318034306907742e-4
allele num: 8628
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.769441187964049e-5
allele num: 10236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 77
allele frequency: 1.163141993957704e-3
allele num: 66200
num of homozygotes: 0

South Asian
type: Population
allele count: 221
allele frequency: 1.40997830802603e-2
allele num: 15674
num of homozygotes: 4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.553e0

DP
type: SiteQuality
SIO_000300: 3.152464e6

QD
type: SiteQuality
SIO_000300: 1.352e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.42e0

GenotypeQuality
all individuals: 675
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1649
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5211
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2475
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159017153453871e-4
allele num: 8628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.379992344009187e-5
allele num: 15674
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66200
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

VQSLOD
type: SiteQuality
SIO_000300: 6.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.553e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

DP
type: SiteQuality
SIO_000300: 3.152464e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e-1

QD
type: SiteQuality
SIO_000300: 1.352e1

GenotypeQuality
all individuals: 2475
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1649
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1916
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5211
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66200
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.189996172004593e-4
allele num: 15674
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.553e0

MQ
type: SiteQuality
SIO_000300: 5.987e1

QD
type: SiteQuality
SIO_000300: 1.352e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

DP
type: SiteQuality
SIO_000300: 3.152464e6

VQSLOD
type: SiteQuality
SIO_000300: 6.42e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

GenotypeQuality
all individuals: 32
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41720
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1206
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2483
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1547
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66194
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159823706796567e-4
allele num: 8622
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: 11542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15608
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.852000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 3.140734e6

FS
type: SiteQuality
SIO_000300: 1.501e0

QD
type: SiteQuality
SIO_000300: 1.519e1

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.663e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.945e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

GenotypeQuality
all individuals: 377
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41721
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1926
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 125
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 681
bin: 2.75e1
variant carriers: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
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: 9.769441187964049e-5
allele num: 10236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15612
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 9.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.61e0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

DP
type: SiteQuality
SIO_000300: 3.138055e6

QD
type: SiteQuality
SIO_000300: 1.201e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.11e-1

GenotypeQuality
all individuals: 1367
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2963
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1366
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65952
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.160631383472609e-4
allele num: 8616
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: 886
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15234
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 7.77e-1

DP
type: SiteQuality
SIO_000300: 3.115067e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.5e0

VQSLOD
type: SiteQuality
SIO_000300: 6.41e-1

FS
type: SiteQuality
SIO_000300: 1.389e0

QD
type: SiteQuality
SIO_000300: 1.365e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.88e-1

GenotypeQuality
all individuals: 1440
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 754
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2479
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1186
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 4.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65660
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.805498843065197e-5
allele num: 14694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 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: 6606
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.373e-1

DP
type: SiteQuality
SIO_000300: 3.103548e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.32e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.614e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
all individuals: 1145
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41707
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1910
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10062
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65654
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.850253459377997e-5
allele num: 14598
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.25e-1

QD
type: SiteQuality
SIO_000300: 1.307e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

DP
type: SiteQuality
SIO_000300: 3.103267e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2813
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variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

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

South Asian
type: Population
allele count: 4
allele frequency: 2.473410833539451e-4
allele num: 16172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.047944161662958e-5
allele num: 65618
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.815469179426777e-5
allele num: 10188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8380
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.07e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.65e-1

QD
type: SiteQuality
SIO_000300: 1.337e1

FS
type: SiteQuality
SIO_000300: 9.715e0

VQSLOD
type: SiteQuality
SIO_000300: 7.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.978e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

DP
type: SiteQuality
SIO_000300: 1.691899e6

GenotypeQuality
all individuals: 6837
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17027
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1791
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522672594938636e-5
allele num: 65674
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10184
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.704012e6

VQSLOD
type: SiteQuality
SIO_000300: -2.935e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 2.44e0

FS
type: SiteQuality
SIO_000300: 3.228e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1423
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3140
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1412
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16276
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: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10232
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65866
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.25e-1

QD
type: SiteQuality
SIO_000300: 8.98e0

VQSLOD
type: SiteQuality
SIO_000300: -7.045e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.75564e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.068e0

GenotypeQuality
all individuals: 4252
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 817
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 417
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variant carriers: 0

GenotypeQuality
all individuals: 3144
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 1.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6534
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.147037128104254e-5
allele num: 16268
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65894
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: -3.69e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.082e1

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: 4.71e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.399e0

DP
type: SiteQuality
SIO_000300: 1.7629e6

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1973
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8459
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 252
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16390
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508386629660915e-5
allele num: 66296
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.93e1

VQSLOD
type: SiteQuality
SIO_000300: 1.18e0

MQRankSum
type: SiteQuality
SIO_000300: -2.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.73e0

DP
type: SiteQuality
SIO_000300: 1.80567e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.35e1

GenotypeQuality
all individuals: 4490
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8556
bin: 9.75e1
variant carriers: 97

GenotypeQuality
all individuals: 28068
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7841
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.688044952528579e-5
allele num: 10322
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.040437823046519e-4
allele num: 6578
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.741553465691397e-4
allele num: 11484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 92
allele frequency: 1.386043148125829e-3
allele num: 66376
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.71e0

MQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.244e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.52e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.385e1

DP
type: SiteQuality
SIO_000300: 1.813569e6

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 8

GenotypeQuality
all individuals: 2169
bin: 8.25e1
variant carriers: 68

GenotypeQuality
all individuals: 113
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variant carriers: 3

GenotypeQuality
all individuals: 33
bin: 2.5e0
variant carriers: 12

GenotypeQuality
all individuals: 988
bin: 8.75e1
variant carriers: 54

GenotypeQuality
all individuals: 5418
bin: 6.75e1
variant carriers: 39

Latino
type: Population
allele count: 3105
allele frequency: 2.699530516431925e-1
allele num: 11502
num of homozygotes: 434

European (Non-Finnish)
type: Population
allele count: 6955
allele frequency: 1.046399662985587e-1
allele num: 66466
num of homozygotes: 352

African
type: Population
allele count: 2359
allele frequency: 2.277466692411662e-1
allele num: 10358
num of homozygotes: 275

South Asian
type: Population
allele count: 2569
allele frequency: 1.560374149659864e-1
allele num: 16464
num of homozygotes: 217

Other
type: Population
allele count: 142
allele frequency: 1.570796460176991e-1
allele num: 904
num of homozygotes: 12

European (Finnish)
type: Population
allele count: 1510
allele frequency: 2.295530556400122e-1
allele num: 6578
num of homozygotes: 196

East Asian
type: Population
allele count: 3432
allele frequency: 3.987915407854985e-1
allele num: 8606
num of homozygotes: 669

DP
type: SiteQuality
SIO_000300: 2.188597e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.702e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.82e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.74e0

QD
type: SiteQuality
SIO_000300: 1.561e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.9e-2

FS
type: SiteQuality
SIO_000300: 6.860000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.955e1

GenotypeQuality
all individuals: 153
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1449
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29074
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8438
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variant carriers: 10

GenotypeQuality
all individuals: 76
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variant carriers: 0

GenotypeQuality
all individuals: 4
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variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.820609297244811e-4
allele num: 16478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.512470701364265e-5
allele num: 66556
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

DP
type: SiteQuality
SIO_000300: 1.868079e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.62e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.36e0

QD
type: SiteQuality
SIO_000300: 1.199e1

FS
type: SiteQuality
SIO_000300: 1.707e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

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

GenotypeQuality
all individuals: 32
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variant carriers: 0

GenotypeQuality
all individuals: 1895
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GenotypeQuality
all individuals: 4440
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variant carriers: 0

GenotypeQuality
all individuals: 3318
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GenotypeQuality
all individuals: 1449
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002191599867904e-5
allele num: 66618
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 9.9e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.01e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.92e-1

DP
type: SiteQuality
SIO_000300: 1.870024e6

QD
type: SiteQuality
SIO_000300: 9.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29813
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 47
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variant carriers: 0

GenotypeQuality
all individuals: 1891
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 3318
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8412
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele num: 11558
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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MQ
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QD
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VQSLOD
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ClippingRankSum
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FS
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InbreedingCoeff
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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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variant carriers: 0

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

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.498711108446736e-5
allele num: 66724
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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MQ
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 9.619084263178146e-5
allele num: 10396
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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Other
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11562
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European (Non-Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
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ReadPosRankSum
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VQSLOD
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BaseQRankSum
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MQ
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QD
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
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African
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Other
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South Asian
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allele frequency: 6.056201550387597e-5
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Latino
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European (Non-Finnish)
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East Asian
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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DP
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QD
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VQSLOD
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FS
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ClippingRankSum
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BaseQRankSum
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MQ
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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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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele num: 8654
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
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QD
type: SiteQuality
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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allele num: 16512
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European (Non-Finnish)
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allele frequency: 2.997062878379188e-5
allele num: 66732
num of homozygotes: 0

Other
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allele num: 908
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MQ
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
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QD
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BaseQRankSum
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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South Asian
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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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allele num: 66734
num of homozygotes: 0

DP
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MQRankSum
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ClippingRankSum
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FS
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MQ
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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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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East Asian
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European (Finnish)
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Other
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num of homozygotes: 0

African
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Latino
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South Asian
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allele num: 16512
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BaseQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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MQ
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DP
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MQRankSum
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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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num of homozygotes: 0

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

South Asian
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MQ
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FS
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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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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South Asian
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num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 8.0e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.05e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.422e0

VQSLOD
type: SiteQuality
SIO_000300: -1.687e0

MQ
type: SiteQuality
SIO_000300: 5.836e1

QD
type: SiteQuality
SIO_000300: 9.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.874995e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4434
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
all individuals: 16
bin: 5.25e1
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: 8654
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498666187093487e-5
allele num: 66726
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

VQSLOD
type: SiteQuality
SIO_000300: -4.662e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.323e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.874597e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 4.473e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.276e0

QD
type: SiteQuality
SIO_000300: 7.92e0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4432
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498800959232614e-5
allele num: 66720
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
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: 908
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.907e1

DP
type: SiteQuality
SIO_000300: 1.874513e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.06e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

FS
type: SiteQuality
SIO_000300: 2.318e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.141e0

MQRankSum
type: SiteQuality
SIO_000300: 1.37e-1

QD
type: SiteQuality
SIO_000300: 2.069e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.673e0

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8393
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 8026
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
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

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

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

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

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.798615066398873e-4
allele num: 66718
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.874838e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.877e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

MQ
type: SiteQuality
SIO_000300: 5.928e1

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.52e-1

QD
type: SiteQuality
SIO_000300: 1.122e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.75e-1

FS
type: SiteQuality
SIO_000300: 5.55e-1

GenotypeQuality
all individuals: 129
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3153
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 95
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variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.501665616278023e-5
allele num: 66642
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 6.196e0

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.636e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.86962e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.98e-1

QD
type: SiteQuality
SIO_000300: 2.642e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
all individuals: 4395
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
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variant carriers: 0

GenotypeQuality
all individuals: 3146
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variant carriers: 0

GenotypeQuality
all individuals: 1885
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variant carriers: 0

GenotypeQuality
all individuals: 3259
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variant carriers: 0

GenotypeQuality
all individuals: 8373
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variant carriers: 7

GenotypeQuality
all individuals: 29276
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

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

South Asian
type: Population
allele count: 5
allele frequency: 3.031772980839195e-4
allele num: 16492
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.514692517418964e-4
allele num: 6602
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.017e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.869521e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-2

MQ
type: SiteQuality
SIO_000300: 5.916e1

QD
type: SiteQuality
SIO_000300: 1.247e1

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 337
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66614
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

MQ
type: SiteQuality
SIO_000300: 5.931e1

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.288e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

DP
type: SiteQuality
SIO_000300: 1.865918e6

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

GenotypeQuality
all individuals: 8363
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 151
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7787
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variant carriers: 0

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

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

African
type: Population
allele count: 7
allele frequency: 6.747638326585695e-4
allele num: 10374
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 2.399e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.705e0

QD
type: SiteQuality
SIO_000300: 1.337e1

VQSLOD
type: SiteQuality
SIO_000300: 2.82e0

MQRankSum
type: SiteQuality
SIO_000300: 2.39e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.85806e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.11e-1

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7700
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GenotypeQuality
all individuals: 1418
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3200
bin: 7.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66546
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.85128e6

QD
type: SiteQuality
SIO_000300: 1.5e1

VQSLOD
type: SiteQuality
SIO_000300: 2.97e0

MQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

FS
type: SiteQuality
SIO_000300: 2.886e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

GenotypeQuality
all individuals: 630
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 373
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GenotypeQuality
all individuals: 8353
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1418
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1872
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 5.25e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00543984612148e-5
allele num: 66546
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.85128e6

FS
type: SiteQuality
SIO_000300: 2.886e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

QD
type: SiteQuality
SIO_000300: 1.5e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.981e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 482
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.34e0

QD
type: SiteQuality
SIO_000300: 1.098e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.840637e6

GenotypeQuality
all individuals: 508
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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: 4278
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GenotypeQuality
all individuals: 1412
bin: 8.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503533303262667e-5
allele num: 66510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.75e-1

FS
type: SiteQuality
SIO_000300: 3.117e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.71e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.98e-1

DP
type: SiteQuality
SIO_000300: 1.827576e6

MQ
type: SiteQuality
SIO_000300: 5.844e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

GenotypeQuality
all individuals: 20
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 557
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7231
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variant carriers: 0

GenotypeQuality
all individuals: 4248
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10366
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 21
allele frequency: 3.159605199807415e-4
allele num: 66464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.377e0

MQRankSum
type: SiteQuality
SIO_000300: 2.99e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.14e-1

DP
type: SiteQuality
SIO_000300: 1.814293e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e-1

QD
type: SiteQuality
SIO_000300: 1.366e1

VQSLOD
type: SiteQuality
SIO_000300: 3.64e0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3069
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21748
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504936190705514e-5
allele num: 66448
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11516
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.309e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.84e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.26e-1

DP
type: SiteQuality
SIO_000300: 1.801538e6

FS
type: SiteQuality
SIO_000300: 3.606e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.899999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.826e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1439
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 676
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variant carriers: 0

GenotypeQuality
all individuals: 1861
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504755025881786e-5
allele num: 66456
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8620
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.75e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.988e0

MQRankSum
type: SiteQuality
SIO_000300: -4.48e-1

DP
type: SiteQuality
SIO_000300: 1.800543e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.32e0

FS
type: SiteQuality
SIO_000300: 2.481e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.701e1

GenotypeQuality
all individuals: 2707
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1210
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GenotypeQuality
all individuals: 3024
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.933114247052001e-4
allele num: 10346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66412
num of homozygotes: 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: 16456
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.07e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.324e0

FS
type: SiteQuality
SIO_000300: 4.13e0

DP
type: SiteQuality
SIO_000300: 1.782731e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.56e-1

QD
type: SiteQuality
SIO_000300: 1.772e1

GenotypeQuality
all individuals: 597
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2986
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variant carriers: 0

GenotypeQuality
all individuals: 1781
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variant carriers: 0

GenotypeQuality
all individuals: 49
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variant carriers: 0

GenotypeQuality
all individuals: 1401
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GenotypeQuality
all individuals: 1860
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
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: 1.507113576079093e-5
allele num: 66352
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.76e0

DP
type: SiteQuality
SIO_000300: 1.778122e6

VQSLOD
type: SiteQuality
SIO_000300: -1.531e0

FS
type: SiteQuality
SIO_000300: 3.847e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.381e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.8e-3

MQ
type: SiteQuality
SIO_000300: 5.942e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.354e0

QD
type: SiteQuality
SIO_000300: 1.229e1

GenotypeQuality
all individuals: 104
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variant carriers: 0

GenotypeQuality
all individuals: 2972
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3025
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GenotypeQuality
all individuals: 8335
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66292
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.718395815170009e-5
allele num: 11470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16410
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -6.94e-1

QD
type: SiteQuality
SIO_000300: 1.216e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.23e-1

DP
type: SiteQuality
SIO_000300: 1.773438e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.156e0

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: 216
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GenotypeQuality
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5344
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.01419878296146e-3
allele num: 986
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.05e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.301e1

FS
type: SiteQuality
SIO_000300: 1.178e0

MQRankSum
type: SiteQuality
SIO_000300: 9.1e-1

DP
type: SiteQuality
SIO_000300: 2.89281e5

BaseQRankSum
type: SiteQuality
SIO_000300: -9.3e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.88e-1

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1782
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.557613931085587e-4
allele num: 5398
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 5.050505050505051e-3
allele num: 198
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 990
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.90625e-3
allele num: 256
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7588
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e-1

FS
type: SiteQuality
SIO_000300: 4.518e0

DP
type: SiteQuality
SIO_000300: 2.94152e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.73e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.305e0

VQSLOD
type: SiteQuality
SIO_000300: 3.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.34e-1

QD
type: SiteQuality
SIO_000300: 1.051e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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: 15
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.01010101010101e-3
allele num: 990
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7606
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1780
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5398
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.84e-2

DP
type: SiteQuality
SIO_000300: 2.94691e5

ClippingRankSum
type: SiteQuality
SIO_000300: -7.52e-1

QD
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 8.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.940357852882703e-4
allele num: 1006
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 262
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1790
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.23e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.621e0

VQSLOD
type: SiteQuality
SIO_000300: 6.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.44e-2

QD
type: SiteQuality
SIO_000300: 1.238e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.78e0

MQRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.97196e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1770
bin: 9.75e1
variant carriers: 15

GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
all individuals: 1034
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1006
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 1.968503937007874e-3
allele num: 7620
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5424
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.65e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.785e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.52e-1

DP
type: SiteQuality
SIO_000300: 2.9744e5

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 9.630000000000001e0

GenotypeQuality
all individuals: 24
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 391
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1761
bin: 9.75e1
variant carriers: 6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 1.105379513633014e-3
allele num: 5428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1008
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1792
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 204
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.59e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

FS
type: SiteQuality
SIO_000300: 2.746e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.53e-2

MQ
type: SiteQuality
SIO_000300: 5.925e1

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.72e-2

DP
type: SiteQuality
SIO_000300: 2.9682e5

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 358
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 323
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 992
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.599104143337066e-4
allele num: 1786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7620
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 206
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.278e0

FS
type: SiteQuality
SIO_000300: 4.695e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.224e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.23e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.85e-2

DP
type: SiteQuality
SIO_000300: 2.94783e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.23e-1

QD
type: SiteQuality
SIO_000300: 1.107e1