16-28845623-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845623
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845623
    reference: chr 16
allele count: 36
allele frequency: 2.970248015709312e-4
allele num: 121202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2173-41G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2173-41G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2173-41G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2398-41G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2173-41G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.148-41G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2173-41G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*583-41G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2630C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.377-41G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.151-41G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2173-41G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2191-41G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.357-41G>A
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4093
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4908
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

16-28845628-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845628
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845628
    reference: chr 16
allele count: 3
allele frequency: 2.475942095967516e-5
allele num: 121166
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2173-36C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2173-36C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2191-36C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2173-36C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.357-36C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2398-36C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.151-36C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2173-36C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2173-36C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.377-36C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2173-36C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2625G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*583-36C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.148-36C>T
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4888
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4492
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum

16-28845629-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845629
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845629
    reference: chr 16
allele count: 7
allele frequency: 5.774243574091794e-5
allele num: 121228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.377-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2173-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2173-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.148-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.357-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2191-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2173-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2624C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.151-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2173-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2173-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*583-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2173-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2398-35G>A
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4316
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4214
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2741
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

16-28845631-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845631
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845631
    reference: chr 16
allele count: 2
allele frequency: 1.649647800194658e-5
allele num: 121238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2173-33G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2173-33G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2173-33G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.151-33G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.148-33G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2398-33G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.377-33G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2173-33G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*583-33G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2173-33G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2173-33G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2191-33G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.357-33G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2622C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4095
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

16-28845634-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845634
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845634
    reference: chr 16
allele count: 1
allele frequency: 8.247286642694553e-6
allele num: 121252
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.357-30A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2173-30A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.377-30A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2398-30A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2173-30A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2191-30A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2173-30A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2619T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2173-30A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2173-30A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.151-30A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*583-30A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.148-30A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2173-30A>G
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4096
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/16-28845644-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845644
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845644
    reference: chr 16
allele count: 1
allele frequency: 8.244838730954422e-6
allele num: 121288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2173-20A>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2398-20A>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.377-20A>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2173-20A>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.151-20A>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2173-20A>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.357-20A>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*583-20A>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.148-20A>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2173-20A>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2173-20A>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2609T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2173-20A>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2191-20A>C
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4495
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

16-28845646-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845646
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845645
    reference: chr 16
allele count: 5
allele frequency: 4.122555324692458e-5
allele num: 121284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*583-17delT
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.377-17delT
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2173-17delT
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2606delA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2173-17delT
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2173-17delT
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2191-17delT
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.357-17delT
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.148-17delT
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2173-17delT
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2173-17delT
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.151-17delT
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2173-17delT
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2398-17delT
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4496
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5107
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4309
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2189
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: CT
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

16-28845653-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845653
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845653
    reference: chr 16
allele count: 3
allele frequency: 2.472921509471289e-5
allele num: 121314
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2600G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.148-11C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.4C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*583-11C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2173-11C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2173-11C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2191-11C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2173-11C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.377-11C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2173-11C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2398-11C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2173-11C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.151-11C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2173-11C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.357-11C>T
  variant of: http://identifiers.org/hgnc/31326
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4304
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4017
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4295
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

16-28845655-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845655
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845655
    reference: chr 16
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2173-9C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2398-9C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*583-9C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2173-9C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2173-9C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2173-9C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2173-9C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.6C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.148-9C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2191-9C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.151-9C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2173-9C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.377-9C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.357-9C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2598G>A
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4890
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5203
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

16-28845659-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845659
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845659
    reference: chr 16
allele count: 2
allele frequency: 1.648396933981703e-5
allele num: 121330
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2173-5C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2173-5C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2191-5C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2594G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.357-5C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.151-5C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*583-5C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2173-5C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2173-5C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2173-5C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.377-5C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2173-5C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.10C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.148-5C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2398-5C>G
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2173-5C>G
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum

http://identifiers.org/exac.variant/16-28845667-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845667
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845667
    reference: chr 16
allele count: 2
allele frequency: 1.647853670594051e-5
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2194C>A
  hgvsp: ENSP00000457613.1:p.Pro732Thr
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.154C>A
  hgvsp: ENSP00000456162.1:p.Pro52Thr
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2176C>A
  hgvsp: ENSP00000315650.6:p.Pro726Thr
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2176C>A
  hgvsp: ENSP00000341459.8:p.Pro726Thr
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2176C>A
  hgvsp: ENSP00000378917.2:p.Pro726Thr
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2401C>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*586C>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2176C>A
  hgvsp: ENSP00000338718.4:p.Pro726Thr
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2176C>A
  hgvsp: ENSP00000454516.1:p.Pro726Thr
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.380C>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2176C>A
  hgvsp: ENSP00000372133.4:p.Pro726Thr
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2586G>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.18C>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.151C>A
  hgvsp: ENSP00000454757.1:p.Pro51Thr
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.360C>A
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3540
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4018
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4636
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4324
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro726Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

16-28845674-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845674
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845674
    reference: chr 16
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2183T>G
  hgvsp: ENSP00000372133.4:p.Met728Arg
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2201T>G
  hgvsp: ENSP00000457613.1:p.Met734Arg
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2183T>G
  hgvsp: ENSP00000378917.2:p.Met728Arg
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2579A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.367T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2183T>G
  hgvsp: ENSP00000341459.8:p.Met728Arg
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.161T>G
  hgvsp: ENSP00000456162.1:p.Met54Arg
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.25T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.158T>G
  hgvsp: ENSP00000454757.1:p.Met53Arg
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2183T>G
  hgvsp: ENSP00000338718.4:p.Met728Arg
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2408T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.387T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2183T>G
  hgvsp: ENSP00000315650.6:p.Met728Arg
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2183T>G
  hgvsp: ENSP00000454516.1:p.Met728Arg
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*593T>G
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1613
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4016
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4326
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4094
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3452
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4912
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4891
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met728Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ

16-28845675-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845675
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845675
    reference: chr 16
allele count: 3
allele frequency: 2.472717681579902e-5
allele num: 121324
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2184G>A
  hgvsp: ENSP00000341459.8:p.Met728Ile
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2578C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2184G>A
  hgvsp: ENSP00000454516.1:p.Met728Ile
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.368G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2184G>A
  hgvsp: ENSP00000378917.2:p.Met728Ile
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2184G>A
  hgvsp: ENSP00000338718.4:p.Met728Ile
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2202G>A
  hgvsp: ENSP00000457613.1:p.Met734Ile
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2184G>A
  hgvsp: ENSP00000315650.6:p.Met728Ile
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2184G>A
  hgvsp: ENSP00000372133.4:p.Met728Ile
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.162G>A
  hgvsp: ENSP00000456162.1:p.Met54Ile
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.388G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.159G>A
  hgvsp: ENSP00000454757.1:p.Met53Ile
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2409G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*594G>A
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4013
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4505
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4897
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3533
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met728Ile
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: InbreedingCoeff

16-28845677-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845677
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845677
    reference: chr 16
allele count: 7
allele frequency: 5.766917664892653e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2186A>T
  hgvsp: ENSP00000378917.2:p.Tyr729Phe
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*596A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2186A>T
  hgvsp: ENSP00000315650.6:p.Tyr729Phe
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.161A>T
  hgvsp: ENSP00000454757.1:p.Tyr54Phe
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2186A>T
  hgvsp: ENSP00000338718.4:p.Tyr729Phe
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2186A>T
  hgvsp: ENSP00000454516.1:p.Tyr729Phe
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2186A>T
  hgvsp: ENSP00000372133.4:p.Tyr729Phe
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.164A>T
  hgvsp: ENSP00000456162.1:p.Tyr55Phe
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2204A>T
  hgvsp: ENSP00000457613.1:p.Tyr735Phe
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.28A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2186A>T
  hgvsp: ENSP00000341459.8:p.Tyr729Phe
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.390A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.370A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2411A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2576T>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3481
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2187
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr729Phe
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

16-28845678-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845678
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845678
    reference: chr 16
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2187T>C
  hgvsp: ENST00000382686.4:c.2187T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.29T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2412T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.165T>C
  hgvsp: ENST00000562583.1:c.165T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2187T>C
  hgvsp: ENST00000336783.4:c.2187T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2187T>C
  hgvsp: ENST00000340394.8:c.2187T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.162T>C
  hgvsp: ENST00000566946.1:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2187T>C
  hgvsp: ENST00000570200.1:c.2187T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2187T>C
  hgvsp: ENST00000325215.6:c.2187T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2187T>C
  hgvsp: ENST00000395547.2:c.2187T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.391T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2205T>C
  hgvsp: ENST00000564304.1:c.2205T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2575A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.371T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*597T>C
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr729Tyr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

16-28845685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845685
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845685
    reference: chr 16
allele count: 4
allele frequency: 3.295055768818887e-5
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*604C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2194C>T
  hgvsp: ENSP00000378917.2:p.Pro732Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.172C>T
  hgvsp: ENSP00000456162.1:p.Pro58Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.169C>T
  hgvsp: ENSP00000454757.1:p.Pro57Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2194C>T
  hgvsp: ENSP00000372133.4:p.Pro732Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2212C>T
  hgvsp: ENSP00000457613.1:p.Pro738Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.36C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2194C>T
  hgvsp: ENSP00000341459.8:p.Pro732Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2194C>T
  hgvsp: ENSP00000454516.1:p.Pro732Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2194C>T
  hgvsp: ENSP00000315650.6:p.Pro732Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2194C>T
  hgvsp: ENSP00000338718.4:p.Pro732Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2568G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.398C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.378C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2419C>T
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro732Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

16-28845698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845698
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845698
    reference: chr 16
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.185C>T
  hgvsp: ENSP00000456162.1:p.Ser62Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2207C>T
  hgvsp: ENSP00000338718.4:p.Ser736Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2207C>T
  hgvsp: ENSP00000315650.6:p.Ser736Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2207C>T
  hgvsp: ENSP00000378917.2:p.Ser736Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2432C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2207C>T
  hgvsp: ENSP00000341459.8:p.Ser736Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2555G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2207C>T
  hgvsp: ENSP00000454516.1:p.Ser736Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.49C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2207C>T
  hgvsp: ENSP00000372133.4:p.Ser736Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.411C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.182C>T
  hgvsp: ENSP00000454757.1:p.Ser61Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.391C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2225C>T
  hgvsp: ENSP00000457613.1:p.Ser742Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*617C>T
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3480
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3449
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4090
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser736Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP

16-28845705-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845705
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845705
    reference: chr 16
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2439T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2214T>C
  hgvsp: ENST00000336783.4:c.2214T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2214T>C
  hgvsp: ENST00000395547.2:c.2214T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2214T>C
  hgvsp: ENST00000340394.8:c.2214T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2548A>G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2232T>C
  hgvsp: ENST00000564304.1:c.2232T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2214T>C
  hgvsp: ENST00000382686.4:c.2214T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.418T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2214T>C
  hgvsp: ENST00000325215.6:c.2214T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2214T>C
  hgvsp: ENST00000570200.1:c.2214T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.192T>C
  hgvsp: ENST00000562583.1:c.192T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.398T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*624T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.56T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.189T>C
  hgvsp: ENST00000566946.1:c.189T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4629
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4282
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5362
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro738Pro
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum

16-28845707-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845707
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845707
    reference: chr 16
allele count: 5
allele frequency: 4.118819711023609e-5
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.191G>C
  hgvsp: ENSP00000454757.1:p.Gly64Ala
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2216G>C
  hgvsp: ENSP00000338718.4:p.Gly739Ala
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*626G>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2546C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2234G>C
  hgvsp: ENSP00000457613.1:p.Gly745Ala
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.58G>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.420G>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2441G>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2216G>C
  hgvsp: ENSP00000315650.6:p.Gly739Ala
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2216G>C
  hgvsp: ENSP00000341459.8:p.Gly739Ala
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2216G>C
  hgvsp: ENSP00000372133.4:p.Gly739Ala
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.194G>C
  hgvsp: ENSP00000456162.1:p.Gly65Ala
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2216G>C
  hgvsp: ENSP00000454516.1:p.Gly739Ala
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2216G>C
  hgvsp: ENSP00000378917.2:p.Gly739Ala
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.400G>C
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4497
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5365
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4281
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: p.Gly739Ala
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

16-28845708-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845708
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845708
    reference: chr 16
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2217G>A
  hgvsp: ENST00000382686.4:c.2217G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.59G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2217G>A
  hgvsp: ENST00000570200.1:c.2217G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2217G>A
  hgvsp: ENST00000395547.2:c.2217G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2217G>A
  hgvsp: ENST00000336783.4:c.2217G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2217G>A
  hgvsp: ENST00000340394.8:c.2217G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2235G>A
  hgvsp: ENST00000564304.1:c.2235G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2217G>A
  hgvsp: ENST00000325215.6:c.2217G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.195G>A
  hgvsp: ENST00000562583.1:c.195G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.192G>A
  hgvsp: ENST00000566946.1:c.192G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2545C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.401G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.421G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*627G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2442G>A
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly739Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

16-28845715-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845715
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845715
    reference: chr 16
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2242G>A
  hgvsp: ENSP00000457613.1:p.Gly748Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2224G>A
  hgvsp: ENSP00000341459.8:p.Gly742Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2224G>A
  hgvsp: ENSP00000315650.6:p.Gly742Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.199G>A
  hgvsp: ENSP00000454757.1:p.Gly67Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2538C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.66G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2224G>A
  hgvsp: ENSP00000454516.1:p.Gly742Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2224G>A
  hgvsp: ENSP00000338718.4:p.Gly742Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.408G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2224G>A
  hgvsp: ENSP00000378917.2:p.Gly742Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2224G>A
  hgvsp: ENSP00000372133.4:p.Gly742Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*634G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2449G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.202G>A
  hgvsp: ENSP00000456162.1:p.Gly68Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.428G>A
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4278
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4905
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2743
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2188
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3531
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly742Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/16-28845724-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845724
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845724
    reference: chr 16
allele count: 204
allele frequency: 1.680727656208806e-3
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.75C>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.437C>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.417C>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2233C>A
  hgvsp: ENST00000395547.2:c.2233C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2458C>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2233C>A
  hgvsp: ENST00000340394.8:c.2233C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2529G>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2233C>A
  hgvsp: ENST00000382686.4:c.2233C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*643C>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.211C>A
  hgvsp: ENST00000562583.1:c.211C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2233C>A
  hgvsp: ENST00000325215.6:c.2233C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.208C>A
  hgvsp: ENST00000566946.1:c.208C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2233C>A
  hgvsp: ENST00000570200.1:c.2233C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2233C>A
  hgvsp: ENST00000336783.4:c.2233C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2251C>A
  hgvsp: ENST00000564304.1:c.2251C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4634
  bin: 5.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1610
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3463
  bin: 7.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 6.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
hgvs: p.Arg745Arg
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

16-28845724-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845724
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845724
    reference: chr 16
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*643C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2529G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2233C>T
  hgvsp: ENSP00000338718.4:p.Arg745Trp
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2251C>T
  hgvsp: ENSP00000457613.1:p.Arg751Trp
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.208C>T
  hgvsp: ENSP00000454757.1:p.Arg70Trp
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2233C>T
  hgvsp: ENSP00000341459.8:p.Arg745Trp
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2233C>T
  hgvsp: ENSP00000454516.1:p.Arg745Trp
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.211C>T
  hgvsp: ENSP00000456162.1:p.Arg71Trp
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.75C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2233C>T
  hgvsp: ENSP00000372133.4:p.Arg745Trp
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2233C>T
  hgvsp: ENSP00000378917.2:p.Arg745Trp
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.437C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.417C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2233C>T
  hgvsp: ENSP00000315650.6:p.Arg745Trp
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2458C>T
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4897
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4092
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4915
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4287
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg745Trp
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

16-28845725-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845725
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845725
    reference: chr 16
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.76G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2234G>A
  hgvsp: ENSP00000341459.8:p.Arg745Gln
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2234G>A
  hgvsp: ENSP00000378917.2:p.Arg745Gln
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2234G>A
  hgvsp: ENSP00000372133.4:p.Arg745Gln
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2528C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.418G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.209G>A
  hgvsp: ENSP00000454757.1:p.Arg70Gln
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.438G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2459G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2252G>A
  hgvsp: ENSP00000457613.1:p.Arg751Gln
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2234G>A
  hgvsp: ENSP00000315650.6:p.Arg745Gln
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*644G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2234G>A
  hgvsp: ENSP00000338718.4:p.Arg745Gln
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2234G>A
  hgvsp: ENSP00000454516.1:p.Arg745Gln
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.212G>A
  hgvsp: ENSP00000456162.1:p.Arg71Gln
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg745Gln
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD

16-28845728-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845728
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845728
    reference: chr 16
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2237G>T
  hgvsp: ENSP00000454516.1:p.Gly746Val
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2237G>T
  hgvsp: ENSP00000315650.6:p.Gly746Val
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2237G>T
  hgvsp: ENSP00000378917.2:p.Gly746Val
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.212G>T
  hgvsp: ENSP00000454757.1:p.Gly71Val
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.79G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2255G>T
  hgvsp: ENSP00000457613.1:p.Gly752Val
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*647G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2237G>T
  hgvsp: ENSP00000341459.8:p.Gly746Val
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2237G>T
  hgvsp: ENSP00000338718.4:p.Gly746Val
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.421G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2462G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.441G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2237G>T
  hgvsp: ENSP00000372133.4:p.Gly746Val
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.215G>T
  hgvsp: ENSP00000456162.1:p.Gly72Val
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2525C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4250
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3447
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4091
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2648
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4331
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly746Val
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

16-28845735-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845735
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845735
    reference: chr 16
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2262A>T
  hgvsp: ENSP00000457613.1:p.Lys754Asn
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.448A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2244A>T
  hgvsp: ENSP00000341459.8:p.Lys748Asn
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2244A>T
  hgvsp: ENSP00000454516.1:p.Lys748Asn
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.222A>T
  hgvsp: ENSP00000456162.1:p.Lys74Asn
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2244A>T
  hgvsp: ENSP00000315650.6:p.Lys748Asn
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.428A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2469A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*654A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2244A>T
  hgvsp: ENSP00000372133.4:p.Lys748Asn
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.219A>T
  hgvsp: ENSP00000454757.1:p.Lys73Asn
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2518T>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2244A>T
  hgvsp: ENSP00000378917.2:p.Lys748Asn
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.86A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2244A>T
  hgvsp: ENSP00000338718.4:p.Lys748Asn
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3542
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys748Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

16-28845742-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845742
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845742
    reference: chr 16
allele count: 5
allele frequency: 4.122011541632317e-5
allele num: 121300
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2511G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.429+6C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.220+6C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2245+6C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.223+6C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2245+6C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2245+6C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*655+6C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2245+6C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2245+6C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2245+6C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2470+6C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.449+6C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2263+6C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.87+6C>T
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4297
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2245+6C>T
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

16-28845746-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845746
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845746
    reference: chr 16
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2245+10G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*655+10G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2245+10G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2245+10G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.449+10G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2245+10G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2470+10G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2245+10G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.223+10G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2507C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2263+10G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2245+10G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.429+10G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.87+10G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.220+10G>T
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4627
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5290
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

16-28845748-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845748
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845748
    reference: chr 16
allele count: 1
allele frequency: 8.245654540057389e-6
allele num: 121276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2245+12T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.449+12T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2245+12T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2245+12T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.223+12T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2245+12T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2245+12T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.429+12T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2245+12T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2470+12T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*655+12T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.220+12T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2505A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.87+12T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2263+12T>G
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5295
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4089
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4015
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2593
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

16-28845751-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845751
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845750
    reference: chr 16
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.220+16delA
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.449+16delA
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2245+16delA
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.429+16delA
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2245+16delA
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.87+16delA
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2245+16delA
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2245+16delA
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2263+16delA
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2245+16delA
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.223+16delA
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2470+16delA
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*655+16delA
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2245+16delA
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2501delT
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3450
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4012
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4628
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: GA
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS

16-28845753-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845753
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845753
    reference: chr 16
allele count: 1
allele frequency: 8.248102936324645e-6
allele num: 121240
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2245+17G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*655+17G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2245+17G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2245+17G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.429+17G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.87+17G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.223+17G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.449+17G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.220+17G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2500C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2245+17G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2245+17G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2245+17G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2470+17G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2263+17G>A
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4007
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3427
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP

16-28845754-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845754
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845754
    reference: chr 16
allele count: 1
allele frequency: 8.247558722618106e-6
allele num: 121248
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*655+18G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2245+18G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2245+18G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.220+18G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.429+18G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2245+18G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2245+18G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.223+18G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2245+18G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.449+18G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2470+18G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2245+18G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.87+18G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2263+18G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2499C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4088
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3532
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff

16-28845757-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845757
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845757
    reference: chr 16
allele count: 1
allele frequency: 8.250144377526608e-6
allele num: 121210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.220+21C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2245+21C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.429+21C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.87+21C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2245+21C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2470+21C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2245+21C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2245+21C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.449+21C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2245+21C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2263+21C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*655+21C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2245+21C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.223+21C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2496G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4621
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4086
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

16-28845761-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845761
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845761
    reference: chr 16
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2245+25C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2245+25C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2245+25C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2245+25C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.429+25C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2492G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.223+25C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2245+25C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.449+25C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.220+25C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2245+25C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2470+25C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*655+25C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.87+25C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2263+25C>T
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5257
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4887
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2184
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4607
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1597
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

16-28845762-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845762
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845762
    reference: chr 16
allele count: 5
allele frequency: 4.126910759681733e-5
allele num: 121156
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2470+26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.223+26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2245+26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.429+26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.449+26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2245+26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2245+26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2245+26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2245+26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*655+26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2491C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.220+26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2245+26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2263+26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.87+26G>A
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4899
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3441
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

16-28845764-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845764
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845764
    reference: chr 16
allele count: 6
allele frequency: 4.954664816925135e-5
allele num: 121098
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2245+28C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2245+28C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2263+28C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2245+28C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*655+28C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2245+28C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2245+28C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2245+28C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.449+28C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.220+28C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.429+28C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2470+28C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2489G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.87+28C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.223+28C>T
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4248
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2183
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

16-28845765-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845765
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845765
    reference: chr 16
allele count: 8
allele frequency: 6.605128882577322e-5
allele num: 121118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.87+29G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2245+29G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.429+29G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2245+29G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2470+29G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2245+29G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.223+29G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2245+29G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.449+29G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2263+29G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2245+29G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*655+29G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2488C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.220+29G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2245+29G>A
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4898
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4886
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4601
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP

16-28845780-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845780
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845780
    reference: chr 16
allele count: 1
allele frequency: 8.262141216517673e-6
allele num: 121034
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2245+44C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.449+44C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2473G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2245+44C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2263+44C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.87+44C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2470+44C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2245+44C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.223+44C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2245+44C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.429+44C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2245+44C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2245+44C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*655+44C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.220+44C>T
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3438
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4082
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS

16-28845783-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845783
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845783
    reference: chr 16
allele count: 1
allele frequency: 8.26405302216419e-6
allele num: 121006
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.88-44C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.430-44C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*656-44C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2246-44C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2246-44C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2246-44C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2246-44C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.221-44C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.449+47C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2264-44C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2471-44C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2246-44C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.224-44C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2246-44C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2470G>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5174
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2186
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4083
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4603
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3908
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum

16-28845791-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845791
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845791
    reference: chr 16
allele count: 11318
allele frequency: 2.010087734877278e-1
allele num: 56306
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2246-36T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-53T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2246-36T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2246-36T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.224-36T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2264-36T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2462A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.430-36T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2471-36T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*656-36T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2246-36T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2246-36T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2246-36T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.221-36T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.88-36T>G
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 3890
  bin: 4.25e1
  variant carriers: 398
genotype depth: GenotypeDepth
  all individuals: 4415
  bin: 6.75e1
  variant carriers: 1256
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 7.25e1
  variant carriers: 1089
genotype depth: GenotypeDepth
  all individuals: 3605
  bin: 3.75e1
  variant carriers: 296
genotype depth: GenotypeDepth
  all individuals: 5211
  bin: 5.75e1
  variant carriers: 1180
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 5.25e1
  variant carriers: 966
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 8.75e1
  variant carriers: 670
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 7.75e1
  variant carriers: 942
genotype depth: GenotypeDepth
  all individuals: 3164
  bin: 9.75e1
  variant carriers: 1279
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 9.25e1
  variant carriers: 486
genotype depth: GenotypeDepth
  all individuals: 4162
  bin: 3.25e1
  variant carriers: 150
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

16-28845792-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845792
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845792
    reference: chr 16
allele count: 1
allele frequency: 8.281299170213822e-6
allele num: 120754
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2246-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2264-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2461C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2246-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2246-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2246-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.224-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2246-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*656-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2471-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.221-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.430-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2246-35G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-52G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.88-35G>A
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1926
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13588
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: FS
site quality: ClippingRankSum

16-28845794-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845794
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845794
    reference: chr 16
allele count: 3077
allele frequency: 2.625471424427038e-2
allele num: 117198
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2246-33A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*656-33A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2246-33A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2246-33A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2246-33A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.221-33A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2459T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.430-33A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-50A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2246-33A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2246-33A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.88-33A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2264-33A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2471-33A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.224-33A>G
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 5.25e1
  variant carriers: 328
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 9.75e1
  variant carriers: 124
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.25e1
  variant carriers: 212
genotype depth: GenotypeDepth
  all individuals: 13572
  bin: 3.25e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 9.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 1765
  bin: 5.75e1
  variant carriers: 350
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13931
  bin: 2.75e1
  variant carriers: 81
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 2.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 115
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

16-28845796-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845796
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845796
    reference: chr 16
allele count: 1
allele frequency: 8.303716743614441e-6
allele num: 120428
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2246-31C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2457G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2246-31C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2246-31C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*656-31C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-48C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2246-31C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.224-31C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2246-31C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2264-31C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.430-31C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.221-31C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.88-31C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2471-31C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2246-31C>G
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3710
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8936
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2414
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 888
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: C
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

16-28845797-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845797
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845797
    reference: chr 16
allele count: 1
allele frequency: 8.293111741387604e-6
allele num: 120582
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.430-30T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2246-30T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2456A>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*656-30T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2246-30T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-47T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2471-30T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2246-30T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.221-30T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2246-30T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2246-30T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2246-30T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2264-30T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.224-30T>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.88-30T>G
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5852
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8934
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1195
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15186
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2412
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

16-28845799-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845799
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845799
    reference: chr 16
allele count: 1
allele frequency: 8.296276631047985e-6
allele num: 120536
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2246-28G>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2246-28G>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.88-28G>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-45G>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.430-28G>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2246-28G>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2246-28G>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2454C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2264-28G>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.221-28G>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*656-28G>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2246-28G>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2471-28G>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2246-28G>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.224-28G>C
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

16-28845799-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845799
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845799
    reference: chr 16
allele count: 10
allele frequency: 8.296276631047986e-5
allele num: 120536
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2246-28G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*656-28G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2246-28G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.221-28G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2264-28G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2471-28G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2246-28G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2246-28G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2246-28G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2246-28G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.224-28G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-45G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.430-28G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2454C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.88-28G>T
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2411
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 759
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ

16-28845800-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845800
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845800
    reference: chr 16
allele count: 2
allele frequency: 1.659475605708596e-5
allele num: 120520
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.88-27A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2246-27A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.224-27A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2471-27A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2246-27A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2264-27A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-44A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2246-27A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.221-27A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2246-27A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*656-27A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2246-27A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2246-27A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.430-27A>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2453T>C
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

16-28845800-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845800
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845800
    reference: chr 16
allele count: 1
allele frequency: 8.29737802854298e-6
allele num: 120520
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2246-27A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.221-27A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2246-27A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2246-27A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2246-27A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.88-27A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2246-27A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.224-27A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2471-27A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-44A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2453T>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*656-27A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.430-27A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2264-27A>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2246-27A>T
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS

16-28845801-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845801
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845801
    reference: chr 16
allele count: 1
allele frequency: 8.296964970213896e-6
allele num: 120526
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-43G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2246-26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2246-26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2264-26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2246-26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.224-26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2246-26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*656-26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2452C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.221-26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2246-26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.430-26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2246-26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2471-26G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.88-26G>A
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3667
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8901
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

16-28845802-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845802
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845802
    reference: chr 16
allele count: 1
allele frequency: 8.304268393954492e-6
allele num: 120420
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2246-25C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*656-25C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2246-25C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2246-25C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.88-25C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2471-25C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2246-25C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.224-25C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2246-25C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-42C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2246-25C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2451G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.221-25C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2264-25C>G
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.430-25C>G
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1412
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

16-28845803-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845803
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845803
    reference: chr 16
allele count: 2
allele frequency: 1.659585767392459e-5
allele num: 120512
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2246-24T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*656-24T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2246-24T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2471-24T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.430-24T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2246-24T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2246-24T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.221-24T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2264-24T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2450A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2246-24T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2246-24T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-41T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.88-24T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.224-24T>C
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15166
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

16-28845808-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845808
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845805
    reference: chr 16
allele count: 4
allele frequency: 3.321928047038501e-5
allele num: 120412
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.224-9_224-7delCTC
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2246-9_2246-7delCTC
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2246-9_2246-7delCTC
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2246-9_2246-7delCTC
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2246-9_2246-7delCTC
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2264-9_2264-7delCTC
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*656-9_*656-7delCTC
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.430-9_430-7delCTC
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2246-9_2246-7delCTC
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-26_450-24delCTC
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.88-9_88-7delCTC
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2471-9_2471-7delCTC
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2442_269+2444delGAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.221-9_221-7delCTC
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2246-9_2246-7delCTC
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3668
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15134
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14418
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1402
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: TCTC
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: QD

16-28845814-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845814
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845814
    reference: chr 16
allele count: 1
allele frequency: 8.305096006909839e-6
allele num: 120408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-30C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*656-13C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2246-13C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2246-13C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.224-13C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.221-13C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2246-13C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2439G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2471-13C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2246-13C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.430-13C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2246-13C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.88-13C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2246-13C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2264-13C>T
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2389
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4428
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: DP

16-28845817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845817
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845817
    reference: chr 16
allele count: 9
allele frequency: 7.475579772742375e-5
allele num: 120392
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2471-10C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-27C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2246-10C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2246-10C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*656-10C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2246-10C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2246-10C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.221-10C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.430-10C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2264-10C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.224-10C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2436G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2246-10C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2246-10C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.88-10C>T
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8867
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: C
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

16-28845820-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845820
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845820
    reference: chr 16
allele count: 2
allele frequency: 1.661709234118214e-5
allele num: 120358
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2246-7C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.221-7C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2246-7C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2264-7C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2433G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2246-7C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-24C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.88-7C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2471-7C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2246-7C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.224-7C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.430-7C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*656-7C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2246-7C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2246-7C>T
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2246-7C>T
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

16-28845821-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845821
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845821
    reference: chr 16
allele count: 1
allele frequency: 8.3099270388406e-6
allele num: 120338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.224-6T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.430-6T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2246-6T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.88-6T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2246-6T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*656-6T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2264-6T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2246-6T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2471-6T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2246-6T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.221-6T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-23T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2246-6T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2246-6T>C
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2432A>G
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4500
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2246-6T>C
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum

16-28845827-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845827
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845827
    reference: chr 16
allele count: 1
allele frequency: 8.31766839119658e-6
allele num: 120226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-17G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2246G>T
  hgvsp: ENSP00000338718.4:p.Gly749Val
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*656G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2264G>T
  hgvsp: ENSP00000457613.1:p.Gly755Val
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.88G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2246G>T
  hgvsp: ENSP00000454516.1:p.Gly749Val
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2246G>T
  hgvsp: ENSP00000341459.8:p.Gly749Val
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2246G>T
  hgvsp: ENSP00000378917.2:p.Gly749Val
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2246G>T
  hgvsp: ENSP00000372133.4:p.Gly749Val
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2426C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.430G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2246G>T
  hgvsp: ENSP00000315650.6:p.Gly749Val
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2471G>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.224G>T
  hgvsp: ENSP00000456162.1:p.Gly75Val
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.221G>T
  hgvsp: ENSP00000454757.1:p.Gly74Val
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3656
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly749Val
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

16-28845828-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845828
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845828
    reference: chr 16
allele count: 1
allele frequency: 8.326810664979099e-6
allele num: 120094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2265C>T
  hgvsp: ENST00000564304.1:c.2265C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2425G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.431C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-16C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.89C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2472C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2247C>T
  hgvsp: ENST00000340394.8:c.2247C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*657C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.222C>T
  hgvsp: ENST00000566946.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2247C>T
  hgvsp: ENST00000570200.1:c.2247C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2247C>T
  hgvsp: ENST00000325215.6:c.2247C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2247C>T
  hgvsp: ENST00000395547.2:c.2247C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2247C>T
  hgvsp: ENST00000336783.4:c.2247C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.225C>T
  hgvsp: ENST00000562583.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2247C>T
  hgvsp: ENST00000382686.4:c.2247C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2247C>T
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD

16-28845831-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845831
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845831
    reference: chr 16
allele count: 1
allele frequency: 8.324592511196577e-6
allele num: 120126
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.228C>T
  hgvsp: ENST00000562583.1:c.228C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.434C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2422G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.225C>T
  hgvsp: ENST00000566946.1:c.225C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2475C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*660C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2268C>T
  hgvsp: ENST00000564304.1:c.2268C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2250C>T
  hgvsp: ENST00000336783.4:c.2250C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2250C>T
  hgvsp: ENST00000570200.1:c.2250C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-13C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2250C>T
  hgvsp: ENST00000340394.8:c.2250C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.92C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2250C>T
  hgvsp: ENST00000325215.6:c.2250C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2250C>T
  hgvsp: ENST00000395547.2:c.2250C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2250C>T
  hgvsp: ENST00000382686.4:c.2250C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14211
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14748
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser750Ser
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

16-28845835-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845835
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845835
    reference: chr 16
allele count: 2
allele frequency: 1.666805567130594e-5
allele num: 119990
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2254C>T
  hgvsp: ENSP00000454516.1:p.Pro752Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2272C>T
  hgvsp: ENSP00000457613.1:p.Pro758Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2254C>T
  hgvsp: ENSP00000315650.6:p.Pro752Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-9C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.96C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.438C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2254C>T
  hgvsp: ENSP00000378917.2:p.Pro752Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.229C>T
  hgvsp: ENSP00000454757.1:p.Pro77Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2254C>T
  hgvsp: ENSP00000341459.8:p.Pro752Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*664C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2254C>T
  hgvsp: ENSP00000338718.4:p.Pro752Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2254C>T
  hgvsp: ENSP00000372133.4:p.Pro752Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2418G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.232C>T
  hgvsp: ENSP00000456162.1:p.Pro78Ser
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2479C>T
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14137
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8838
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro752Ser
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP

16-28845836-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845836
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845836
    reference: chr 16
allele count: 2
allele frequency: 1.669058984544514e-5
allele num: 119828
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.230C>T
  hgvsp: ENSP00000454757.1:p.Pro77Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2255C>T
  hgvsp: ENSP00000341459.8:p.Pro752Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2255C>T
  hgvsp: ENSP00000372133.4:p.Pro752Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.233C>T
  hgvsp: ENSP00000456162.1:p.Pro78Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2480C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2255C>T
  hgvsp: ENSP00000315650.6:p.Pro752Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2255C>T
  hgvsp: ENSP00000338718.4:p.Pro752Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2255C>T
  hgvsp: ENSP00000454516.1:p.Pro752Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*665C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2273C>T
  hgvsp: ENSP00000457613.1:p.Pro758Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2255C>T
  hgvsp: ENSP00000378917.2:p.Pro752Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-8C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.439C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.97C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2417G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8791
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro752Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

16-28845839-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845839
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845839
    reference: chr 16
allele count: 2
allele frequency: 1.669449081803005e-5
allele num: 119800
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2258C>T
  hgvsp: ENSP00000372133.4:p.Pro753Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.233C>T
  hgvsp: ENSP00000454757.1:p.Pro78Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*668C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.236C>T
  hgvsp: ENSP00000456162.1:p.Pro79Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2414G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2258C>T
  hgvsp: ENSP00000378917.2:p.Pro753Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2258C>T
  hgvsp: ENSP00000315650.6:p.Pro753Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2258C>T
  hgvsp: ENSP00000341459.8:p.Pro753Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-5C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.442C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2258C>T
  hgvsp: ENSP00000454516.1:p.Pro753Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2258C>T
  hgvsp: ENSP00000338718.4:p.Pro753Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2483C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2276C>T
  hgvsp: ENSP00000457613.1:p.Pro759Leu
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.100C>T
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4488
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro753Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

16-28845840-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845840
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845840
    reference: chr 16
allele count: 44
allele frequency: 3.675303630197631e-4
allele num: 119718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2484G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2259G>A
  hgvsp: ENST00000570200.1:c.2259G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2259G>A
  hgvsp: ENST00000336783.4:c.2259G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*669G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.234G>A
  hgvsp: ENST00000566946.1:c.234G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.443G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2259G>A
  hgvsp: ENST00000325215.6:c.2259G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.450-4G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.101G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2277G>A
  hgvsp: ENST00000564304.1:c.2277G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2259G>A
  hgvsp: ENST00000395547.2:c.2259G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2259G>A
  hgvsp: ENST00000340394.8:c.2259G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2259G>A
  hgvsp: ENST00000382686.4:c.2259G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.237G>A
  hgvsp: ENST00000562583.1:c.237G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2413C>T
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14596
  bin: 2.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
hgvs: n.450-4G>A
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP

16-28845845-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845845
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845845
    reference: chr 16
allele count: 1
allele frequency: 8.357290900581667e-6
allele num: 119656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2264G>A
  hgvsp: ENSP00000372133.4:p.Arg755His
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2489G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457613
  ensembl transcript: ENST00000564304
  gene symbol: ATXN2L
  hgvsc: ENST00000564304.1:c.2282G>A
  hgvsp: ENSP00000457613.1:p.Arg761His
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000457599
  ensembl transcript: ENST00000565971
  gene symbol: ATXN2L
  hgvsc: ENST00000565971.1:c.*674G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.451G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000378917
  ensembl transcript: ENST00000395547
  gene symbol: ATXN2L
  hgvsc: ENST00000395547.2:c.2264G>A
  hgvsp: ENSP00000378917.2:p.Arg755His
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000456162
  ensembl transcript: ENST00000562583
  gene symbol: ATXN2L
  hgvsc: ENST00000562583.1:c.242G>A
  hgvsp: ENSP00000456162.1:p.Arg81His
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2264G>A
  hgvsp: ENSP00000315650.6:p.Arg755His
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2264G>A
  hgvsp: ENSP00000341459.8:p.Arg755His
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2264G>A
  hgvsp: ENSP00000454516.1:p.Arg755His
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.448G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2264G>A
  hgvsp: ENSP00000338718.4:p.Arg755His
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2408C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000561732
  gene symbol: ATXN2L
  hgvsc: ENST00000561732.1:n.106G>A
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454757
  ensembl transcript: ENST00000566946
  gene symbol: ATXN2L
  hgvsc: ENST00000566946.1:c.239G>A
  hgvsp: ENSP00000454757.1:p.Arg80His
  variant of: http://identifiers.org/hgnc/31326
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14046
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5737
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg755His
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS

16-28845858-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 28845858
    reference: chr 16
  end: Position
    type: ExactPosition
    position: 28845858
    reference: chr 16
allele count: 6
allele frequency: 5.025125628140704e-5
allele num: 119400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000454516
  ensembl transcript: ENST00000570200
  gene symbol: ATXN2L
  hgvsc: ENST00000570200.1:c.2277C>T
  hgvsp: ENST00000570200.1:c.2277C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000372133
  ensembl transcript: ENST00000382686
  gene symbol: ATXN2L
  hgvsc: ENST00000382686.4:c.2277C>T
  hgvsp: ENST00000382686.4:c.2277C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000565845
  gene symbol: ATXN2L
  hgvsc: ENST00000565845.1:n.464C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000315650
  ensembl transcript: ENST00000325215
  gene symbol: ATXN2L
  hgvsc: ENST00000325215.6:c.2277C>T
  hgvsp: ENST00000325215.6:c.2277C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000338718
  ensembl transcript: ENST00000336783
  gene symbol: ATXN2L
  hgvsc: ENST00000336783.4:c.2277C>T
  hgvsp: ENST00000336783.4:c.2277C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000563314
  gene symbol: ATXN2L
  hgvsc: ENST00000563314.1:n.2502C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000168488
  ensembl transcript: ENST00000564035
  gene symbol: ATXN2L
  hgvsc: ENST00000564035.1:n.461C>T
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000168488
  ensembl protein: ENSP00000341459
  ensembl transcript: ENST00000340394
  gene symbol: ATXN2L
  hgvsc: ENST00000340394.8:c.2277C>T
  hgvsp: ENST00000340394.8:c.2277C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/31326
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000260570
  ensembl transcript: ENST00000563565
  gene symbol: RP11-24N18.1
  hgvsc: ENST00000563565.1:n.269+2395G>A
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.His759His
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4342
bin: 9.75e1
variant carriers: 25

GenotypeDepth
all individuals: 4014
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2168
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4751
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4491
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 41
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2616
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1397
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36088
bin: 9.75e1
variant carriers: 36

GenotypeQuality
all individuals: 15
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8392
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3751
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2587
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2601
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.25e1
variant carriers: 0

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

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

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

East Asian
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DP
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MQ
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BaseQRankSum
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VQSLOD
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QD
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FS
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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 num: 10404
num of homozygotes: 0

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

Other
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European (Finnish)
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num of homozygotes: 0

South Asian
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European (Non-Finnish)
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ReadPosRankSum
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QD
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VQSLOD
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FS
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DP
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ClippingRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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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allele num: 66712
num of homozygotes: 0

Latino
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allele num: 11576
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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

South Asian
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Other
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Latino
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European (Non-Finnish)
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African
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European (Finnish)
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ClippingRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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FS
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QD
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MQRankSum
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VQSLOD
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BaseQRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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European (Non-Finnish)
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East Asian
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European (Finnish)
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African
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South Asian
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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DP
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VQSLOD
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FS
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SIO_000300: 7.76e-1

QD
type: SiteQuality
SIO_000300: 2.003e1

InbreedingCoeff
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SIO_000300: -5.0e-4

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

European (Finnish)
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allele count: 7
allele frequency: 1.058361052313275e-3
allele num: 6614
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.945e1

BaseQRankSum
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SIO_000300: 3.1e0

MQRankSum
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SIO_000300: -1.32e-1

QD
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ClippingRankSum
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FS
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SIO_000300: 4.087e0

InbreedingCoeff
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SIO_000300: -1.0e-4

DP
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SIO_000300: 3.527419e6

ReadPosRankSum
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SIO_000300: 1.1e0

VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498845888665727e-5
allele num: 66718
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -1.995e0

MQ
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SIO_000300: 5.872e1

FS
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SIO_000300: 2.434e0

ReadPosRankSum
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SIO_000300: 1.11e0

MQRankSum
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SIO_000300: -7.31e-1

QD
type: SiteQuality
SIO_000300: 1.85e1

DP
type: SiteQuality
SIO_000300: 3.527024e6

BaseQRankSum
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SIO_000300: 4.45e0

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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
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allele count: 0
allele frequency: 0.0e0
allele num: 10404
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.495863805299125e-5
allele num: 66728
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.92e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 2.571e0

DP
type: SiteQuality
SIO_000300: 3.527119e6

BaseQRankSum
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SIO_000300: -5.011e0

MQRankSum
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SIO_000300: 1.06e0

VQSLOD
type: SiteQuality
SIO_000300: 5.5e-1

ReadPosRankSum
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -9.7e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

East Asian
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QD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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VQSLOD
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ClippingRankSum
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BaseQRankSum
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MQ
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

South Asian
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num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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Other
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African
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ClippingRankSum
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QD
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FS
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VQSLOD
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DP
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MQRankSum
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SIO_000300: 5.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.793e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 2581
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66730
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: 11576
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.917e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

FS
type: SiteQuality
SIO_000300: 4.42e0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.337e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-2

QD
type: SiteQuality
SIO_000300: 1.053e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 3.525803e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

FS
type: SiteQuality
SIO_000300: 5.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.889999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 1.098e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.173e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 3.525434e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeDepth
all individuals: 4012
bin: 4.75e1
variant carriers: 7

GenotypeDepth
all individuals: 2637
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4287
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variant carriers: 48

GenotypeDepth
all individuals: 3469
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variant carriers: 2

GenotypeDepth
all individuals: 4092
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variant carriers: 10

GenotypeDepth
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variant carriers: 15

GenotypeDepth
all individuals: 2742
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variant carriers: 10

GenotypeDepth
all individuals: 2202
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variant carriers: 23

GenotypeDepth
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variant carriers: 16

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 203

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496807266840543e-5
allele num: 66714
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: 6614
num of homozygotes: 0

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

Other
type: Population
allele count: 2
allele frequency: 2.207505518763797e-3
allele num: 906
num of homozygotes: 0

South Asian
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allele count: 199
allele frequency: 1.205330102967898e-2
allele num: 16510
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

FS
type: SiteQuality
SIO_000300: 1.823e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

QD
type: SiteQuality
SIO_000300: 1.18e1

DP
type: SiteQuality
SIO_000300: 3.528972e6

GenotypeDepth
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bin: 9.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 906
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-3

MQ
type: SiteQuality
SIO_000300: 5.96e1

QD
type: SiteQuality
SIO_000300: 1.18e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.92e0

DP
type: SiteQuality
SIO_000300: 3.528972e6

FS
type: SiteQuality
SIO_000300: 1.823e0

VQSLOD
type: SiteQuality
SIO_000300: 2.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.66e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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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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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

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

African
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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 (Non-Finnish)
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allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.220000000000001e0

DP
type: SiteQuality
SIO_000300: 3.522213e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 8.19e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

MQRankSum
type: SiteQuality
SIO_000300: 1.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.1e0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

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

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

Other
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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: 6614
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.282e0

BaseQRankSum
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SIO_000300: -2.54e0

VQSLOD
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SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

DP
type: SiteQuality
SIO_000300: 3.522092e6

MQ
type: SiteQuality
SIO_000300: 5.766e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.66e-1

QD
type: SiteQuality
SIO_000300: 9.24e0

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499655079331754e-5
allele num: 66682
num of homozygotes: 0

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

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

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

Other
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num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
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VQSLOD
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DP
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QD
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MQ
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BaseQRankSum
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FS
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MQRankSum
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ClippingRankSum
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SIO_000300: -2.09e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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: 5

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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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: 5
allele frequency: 7.502325720973501e-5
allele num: 66646
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-1

ClippingRankSum
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SIO_000300: -7.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.9e-2

VQSLOD
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FS
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SIO_000300: 1.112e0

BaseQRankSum
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SIO_000300: -2.767e0

MQ
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SIO_000300: 5.953e1

DP
type: SiteQuality
SIO_000300: 3.519986e6

QD
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SIO_000300: 1.169e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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

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: 11576
num of homozygotes: 0

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

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

African
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allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66630
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 8.77e-1

ClippingRankSum
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FS
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MQRankSum
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BaseQRankSum
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QD
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MQ
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InbreedingCoeff
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SIO_000300: 1.3e-3

ReadPosRankSum
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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

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

African
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allele count: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

Other
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
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num of homozygotes: 0

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

European (Finnish)
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FS
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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MQ
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ClippingRankSum
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BaseQRankSum
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QD
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DP
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SIO_000300: 3.518405e6

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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South Asian
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allele num: 16508
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East Asian
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Other
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European (Non-Finnish)
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allele count: 0
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num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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East Asian
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South Asian
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MQ
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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QD
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FS
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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

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allele frequency: 0.0e0
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num of homozygotes: 0

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

European (Non-Finnish)
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European (Finnish)
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Other
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South Asian
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BaseQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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DP
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ClippingRankSum
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FS
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MQRankSum
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MQ
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

South Asian
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East Asian
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African
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European (Non-Finnish)
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QD
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MQ
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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DP
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MQRankSum
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SIO_000300: -3.3e-1

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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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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South Asian
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num of homozygotes: 0

Other
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African
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allele num: 10374
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Latino
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 66528
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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FS
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VQSLOD
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InbreedingCoeff
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QD
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BaseQRankSum
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ReadPosRankSum
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MQ
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ClippingRankSum
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DP
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MQRankSum
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GenotypeDepth
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variant carriers: 0

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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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num of homozygotes: 0

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

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

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

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

South Asian
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allele frequency: 6.075334143377886e-5
allele num: 16460
num of homozygotes: 0

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

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

ClippingRankSum
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SIO_000300: 1.05e-1

QD
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ReadPosRankSum
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VQSLOD
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MQ
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DP
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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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South 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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Other
type: Population
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504709741490866e-5
allele num: 66458
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

VQSLOD
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QD
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SIO_000300: 3.358e1

ReadPosRankSum
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SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

MQRankSum
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SIO_000300: 5.08e-1

MQ
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SIO_000300: 5.763e1

FS
type: SiteQuality
SIO_000300: 3.102e0

DP
type: SiteQuality
SIO_000300: 3.496924e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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: 183

European (Finnish)
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allele count: 952
allele frequency: 3.701399688958009e-1
allele num: 2572
num of homozygotes: 0

African
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allele count: 957
allele frequency: 2.171052631578947e-1
allele num: 4408
num of homozygotes: 0

South Asian
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allele count: 682
allele frequency: 6.283397825686383e-2
allele num: 10854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6350
allele frequency: 2.062223954273837e-1
allele num: 30792
num of homozygotes: 0

Latino
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allele count: 1406
allele frequency: 3.404358353510896e-1
allele num: 4130
num of homozygotes: 0

East Asian
type: Population
allele count: 898
allele frequency: 2.896774193548387e-1
allele num: 3100
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Other
type: Population
allele count: 73
allele frequency: 1.622222222222222e-1
allele num: 450
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.297e2

InbreedingCoeff
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SIO_000300: -2.68e-1

FS
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SIO_000300: 1.83446e2

ClippingRankSum
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ReadPosRankSum
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MQRankSum
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SIO_000300: -3.34e-1

BaseQRankSum
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SIO_000300: -4.733e0

MQ
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SIO_000300: 5.883e1

QD
type: SiteQuality
SIO_000300: 2.72e0

DP
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GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507840772014475e-5
allele num: 66320
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
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InbreedingCoeff
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SIO_000300: 7.4e-3

MQRankSum
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MQ
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SIO_000300: 5.92e1

BaseQRankSum
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SIO_000300: -2.001e0

ReadPosRankSum
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SIO_000300: 9.44e-1

VQSLOD
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QD
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DP
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SIO_000300: 2.280614e6

FS
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ClippingRankSum
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GenotypeDepth
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variant carriers: 223

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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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East Asian
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allele count: 149
allele frequency: 1.756661164819618e-2
allele num: 8482
num of homozygotes: 0

Latino
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allele count: 315
allele frequency: 2.870944221655122e-2
allele num: 10972
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1684
allele frequency: 2.603425885845031e-2
allele num: 64684
num of homozygotes: 0

South Asian
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allele frequency: 4.165645675079637e-3
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Other
type: Population
allele count: 32
allele frequency: 3.67816091954023e-2
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African
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allele count: 305
allele frequency: 3.047561950439648e-2
allele num: 10008
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European (Finnish)
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allele count: 524
allele frequency: 8.945032434277911e-2
allele num: 5858
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MQRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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ClippingRankSum
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DP
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QD
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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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Other
type: Population
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Latino
type: Population
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10288
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
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European (Non-Finnish)
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allele count: 1
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allele num: 66182
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QD
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FS
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VQSLOD
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DP
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BaseQRankSum
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MQ
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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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African
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Latino
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European (Finnish)
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South Asian
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Other
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East Asian
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InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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VQSLOD
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BaseQRankSum
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FS
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MQ
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
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num of homozygotes: 0

European (Non-Finnish)
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African
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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MQ
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SIO_000300: 5.957e1

ReadPosRankSum
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ClippingRankSum
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DP
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FS
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VQSLOD
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MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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 num: 6582
num of homozygotes: 0

Latino
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African
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South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 6.042296072507553e-5
allele num: 66200
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East Asian
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Other
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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QD
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FS
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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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European (Non-Finnish)
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Latino
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African
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European (Finnish)
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South Asian
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ClippingRankSum
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MQ
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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QD
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DP
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VQSLOD
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FS
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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European (Finnish)
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African
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European (Non-Finnish)
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East Asian
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Other
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VQSLOD
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MQRankSum
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DP
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BaseQRankSum
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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ClippingRankSum
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FS
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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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Other
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African
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Latino
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East Asian
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European (Non-Finnish)
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MQRankSum
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FS
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DP
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ClippingRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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 (Non-Finnish)
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allele frequency: 1.512310205069264e-5
allele num: 66124
num of homozygotes: 0

Other
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DP
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InbreedingCoeff
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FS
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ReadPosRankSum
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BaseQRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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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Latino
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allele frequency: 0.0e0
allele num: 11552
num of homozygotes: 0

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

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

African
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allele count: 1
allele frequency: 9.718172983479106e-5
allele num: 10290
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.511487303506651e-5
allele num: 66160
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele frequency: 9.737098344693281e-5
allele num: 10270
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.537754114230397e-5
allele num: 66112
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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DP
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MQ
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SIO_000300: 5.881e1

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

African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

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

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

European (Finnish)
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num of homozygotes: 0

Other
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FS
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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BaseQRankSum
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MQ
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QD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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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Other
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East Asian
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Latino
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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FS
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DP
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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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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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

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

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1793
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3506
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3814
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10076
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.734003814808393e-4
allele num: 11534
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65808
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.122e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 2.071313e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.419e0

MQ
type: SiteQuality
SIO_000300: 5.926e1

MQRankSum
type: SiteQuality
SIO_000300: 1.99e0

QD
type: SiteQuality
SIO_000300: 1.378e1

FS
type: SiteQuality
SIO_000300: 2.686e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.77e0

GenotypeDepth
all individuals: 14046
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 3650
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1527
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 145
bin: 9.75e1
variant carriers: 19

GenotypeDepth
all individuals: 8761
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4537
bin: 2.25e1
variant carriers: 5

GenotypeDepth
all individuals: 45
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 254
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 63
bin: 8.75e1
variant carriers: 4

GenotypeDepth
all individuals: 5745
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 3503
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 348
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 110
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3808
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1789
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4763
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9218
bin: 9.75e1
variant carriers: 44

GenotypeQuality
all individuals: 21917
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8333
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2705
bin: 9.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 3
allele frequency: 2.601908065915004e-4
allele num: 11530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.560379423568041e-5
allele num: 65784
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10048
num of homozygotes: 0

South Asian
type: Population
allele count: 38
allele frequency: 2.333005893909627e-3
allele num: 16288
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.78e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

QD
type: SiteQuality
SIO_000300: 1.459e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.072117e6

GenotypeDepth
all individuals: 3652
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 147
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 641
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 14650
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4671
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1491
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 456
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2385
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3511
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4778
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1624
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 99
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1793
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8372
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9185
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 22375
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2705
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 536
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3816
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10036
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.521097624045511e-5
allele num: 65742
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16296
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.070007e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.17e0

QD
type: SiteQuality
SIO_000300: 1.149e1

FS
type: SiteQuality
SIO_000300: 0.0e0