3-46713542-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713542
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713542
    reference: chr 3
allele count: 3
allele frequency: 2.472758444470088e-5
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2535-19G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4377-19G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2851-19G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4220-19G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.239-19G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2535-19G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2117-19G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1213-19G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.134-19G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.576-19G>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6350
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1947
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1893
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4438
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11533
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

3-46713547-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713547
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713547
    reference: chr 3
allele count: 2
allele frequency: 1.648288252649623e-5
allele num: 121338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1213-24C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.576-24C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4377-24C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.134-24C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2851-24C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4220-24C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2535-24C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2117-24C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.239-24C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2535-24C>T
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8346
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1827
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum

3-46713554-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713554
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713554
    reference: chr 3
allele count: 17
allele frequency: 1.401091202795589e-4
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2117-31C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.134-31C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2535-31C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4377-31C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2851-31C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1213-31C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.239-31C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4220-31C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2535-31C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.576-31C>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1677
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10312
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2134
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8343
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS

3-46713561-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713561
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713561
    reference: chr 3
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.576-38C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2117-38C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1213-38C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.239-38C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2851-38C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2535-38C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2535-38C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4220-38C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.134-38C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4377-38C>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2776
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3246
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-46713567-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713567
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713567
    reference: chr 3
allele count: 3
allele frequency: 2.472839974282464e-5
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1213-44A>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.239-44A>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4220-44A>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.134-44A>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2535-44A>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.576-44A>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2535-44A>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4377-44A>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2117-44A>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2851-44A>T
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9763
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2137
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1894
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1834
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2775
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1944
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28496
  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

3-46713572-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713572
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713572
    reference: chr 3
allele count: 8
allele frequency: 6.59337036609689e-5
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.239-49T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.134-49T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2535-49T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2117-49T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1213-49T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2535-49T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.576-49T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4220-49T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4377-49T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2851-49T>C
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1895
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10313
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2138
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 28505
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

3-46713573-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713573
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713573
    reference: chr 3
allele count: 8
allele frequency: 6.593805120089676e-5
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1213-50G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.576-50G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4377-50G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2851-50G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2535-50G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2117-50G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2535-50G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.239-50G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.134-50G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4220-50G>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2136
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9734
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10316
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2784
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4455
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8372
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28506
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 11226
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

3-46713579-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713579
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713579
    reference: chr 3
allele count: 3
allele frequency: 2.47239162683369e-5
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.133+51C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.238+51C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.575+51C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2116+51C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1212+51C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4376+51C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2534+51C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4219+51C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2850+51C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2534+51C>T
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30351
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13120
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2594
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37275
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

3-46713581-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713581
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713581
    reference: chr 3
allele count: 47
allele frequency: 3.873668941416939e-4
allele num: 121332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.575+49T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4219+49T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1212+49T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2116+49T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4376+49T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2534+49T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2534+49T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.238+49T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.133+49T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2850+49T>C
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9481
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13102
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 30372
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1431
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 8.75e1
  variant carriers: 0
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: A
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

3-46713582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713582
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713582
    reference: chr 3
allele count: 1
allele frequency: 8.241712957621112e-6
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2850+48G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2116+48G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4219+48G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.133+48G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.575+48G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.238+48G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2534+48G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2534+48G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1212+48G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4376+48G>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2580
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30398
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9495
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

3-46713587-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713587
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713587
    reference: chr 3
allele count: 5
allele frequency: 4.121060266385336e-5
allele num: 121328
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2534+43G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4219+43G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4376+43G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.575+43G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.238+43G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2534+43G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1212+43G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2116+43G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2850+43G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.133+43G>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 465
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2562
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/3-46713594-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713594
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713594
    reference: chr 3
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.133+36G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4376+36G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2850+36G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4219+36G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1212+36G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2116+36G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2534+36G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2534+36G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.238+36G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.575+36G>T
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9618
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2537
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2752
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP

3-46713595-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713595
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713595
    reference: chr 3
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1212+35G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4219+35G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4376+35G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.133+35G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2116+35G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2534+35G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2534+35G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.238+35G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.575+35G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2850+35G>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13067
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10071
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

3-46713598-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713598
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713598
    reference: chr 3
allele count: 4
allele frequency: 3.296793867963405e-5
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2534+32G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.133+32G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4376+32G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.238+32G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2116+32G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.575+32G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2850+32G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4219+32G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1212+32G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2534+32G>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13069
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30434
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9645
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum

3-46713599-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713599
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713599
    reference: chr 3
allele count: 22
allele frequency: 1.813386086383119e-4
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2534+31C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2850+31C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4376+31C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.238+31C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2116+31C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1212+31C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.575+31C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4219+31C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.133+31C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2534+31C>T
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13057
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30451
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10059
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4398
  bin: 9.75e1
  variant carriers: 20
num of homozygotes: 1
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

3-46713600-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713600
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713600
    reference: chr 3
allele count: 32
allele frequency: 2.637435094370724e-4
allele num: 121330
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2534+30C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4219+30C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2534+30C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4376+30C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.238+30C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1212+30C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.133+30C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2850+30C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.575+30C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2116+30C>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2510
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30462
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9676
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13068
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1393
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 1
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

3-46713605-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713605
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713605
    reference: chr 3
allele count: 2
allele frequency: 1.648641519388024e-5
allele num: 121312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.575+25G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2850+25G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4376+25G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.238+25G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4219+25G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1212+25G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.133+25G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2534+25G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2116+25G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2534+25G>C
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2737
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/3-46713611-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713611
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713611
    reference: chr 3
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2534+19G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2116+19G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.238+19G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4376+19G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1212+19G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.575+19G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.133+19G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4219+19G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2850+19G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2534+19G>T
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10076
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD

3-46713611-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713611
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713611
    reference: chr 3
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.133+19G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2534+19G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2850+19G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2534+19G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4376+19G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.575+19G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.238+19G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4219+19G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2116+19G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1212+19G>C
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2487
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9725
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

3-46713612-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713612
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713612
    reference: chr 3
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2534+18T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.575+18T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1212+18T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4376+18T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2850+18T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.133+18T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2116+18T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4219+18T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.238+18T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2534+18T>C
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30557
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

3-46713615-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713615
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713615
    reference: chr 3
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2116+15T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2850+15T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4219+15T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.133+15T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4376+15T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2534+15T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.575+15T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.238+15T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2534+15T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1212+15T>C
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13040
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

3-46713617-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713617
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713617
    reference: chr 3
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4219+13C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.575+13C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2850+13C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4376+13C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2534+13C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2116+13C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1212+13C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2534+13C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.238+13C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.133+13C>T
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13031
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ

3-46713619-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713619
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713619
    reference: chr 3
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.133+11G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2534+11G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2534+11G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.575+11G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1212+11G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.238+11G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2116+11G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4219+11G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4376+11G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2850+11G>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2482
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum

3-46713625-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713625
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713625
    reference: chr 3
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2116+5G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.575+5G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2850+5G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.133+5G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4376+5G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2534+5G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4219+5G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2534+5G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.238+5G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1212+5G>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13025
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30569
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2474
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2534+5G>A
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

3-46713629-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713629
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713629
    reference: chr 3
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2116+1G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4376+1G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.575+1G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1212+1G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2850+1G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.238+1G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2534+1G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4219+1G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2534+1G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.133+1G>C
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13020
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10053
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2714
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
hgvs: c.2534+1G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

3-46713629-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713629
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713629
    reference: chr 3
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4376+1G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2116+1G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.238+1G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1212+1G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4219+1G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.575+1G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.133+1G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2850+1G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2534+1G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2534+1G>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9812
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
hgvs: c.2534+1G>A
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

3-46713630-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713630
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713630
    reference: chr 3
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2850T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.133T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.238T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2116T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2534T>C
  hgvsp: ENSP00000413223.1:p.Met845Thr
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4219T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2534T>C
  hgvsp: ENSP00000313670.4:p.Met845Thr
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.575T>C
  hgvsp: ENSP00000373248.3:p.Met192Thr
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1212T>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4376T>C
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13009
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30588
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 849
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met845Thr
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

3-46713633-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713633
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713633
    reference: chr 3
allele count: 16
allele frequency: 1.319152444554374e-4
allele num: 121290
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.572T>A
  hgvsp: ENSP00000373248.3:p.Ile191Asn
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.130T>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2113T>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4373T>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4216T>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2531T>A
  hgvsp: ENSP00000313670.4:p.Ile844Asn
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1209T>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2847T>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2531T>A
  hgvsp: ENSP00000413223.1:p.Ile844Asn
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.235T>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2465
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13008
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1031
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile844Asn
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

3-46713649-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713649
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713649
    reference: chr 3
allele count: 5
allele frequency: 4.124799947202561e-5
allele num: 121218
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2515G>C
  hgvsp: ENSP00000413223.1:p.Glu839Gln
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2097G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4357G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2515G>C
  hgvsp: ENSP00000313670.4:p.Glu839Gln
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2831G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.556G>C
  hgvsp: ENSP00000373248.3:p.Glu186Gln
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1193G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.219G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.114G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4200G>C
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12952
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu839Gln
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-46713649-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713649
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713649
    reference: chr 3
allele count: 9
allele frequency: 7.424639904964609e-5
allele num: 121218
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2515G>A
  hgvsp: ENSP00000313670.4:p.Glu839Lys
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4200G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2515G>A
  hgvsp: ENSP00000413223.1:p.Glu839Lys
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1193G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.556G>A
  hgvsp: ENSP00000373248.3:p.Glu186Lys
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4357G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2097G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2831G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.114G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.219G>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12952
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu839Lys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

3-46713650-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713650
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713650
    reference: chr 3
allele count: 9
allele frequency: 7.424272421302712e-5
allele num: 121224
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4199C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2096C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2514C>T
  hgvsp: ENST00000318962.4:c.2514C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1192C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.113C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2514C>T
  hgvsp: ENST00000415953.1:c.2514C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.218C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4356C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2830C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.555C>T
  hgvsp: ENST00000383742.3:c.555C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12943
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30538
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38164
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Thr838Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

3-46713674-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713674
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713674
    reference: chr 3
allele count: 1
allele frequency: 8.283082632032337e-6
allele num: 120728
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2490G>A
  hgvsp: ENST00000318962.4:c.2490G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2806G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.89G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4332G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4175G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1168G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2490G>A
  hgvsp: ENST00000415953.1:c.2490G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.194G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.531G>A
  hgvsp: ENST00000383742.3:c.531G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2072G>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12631
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9913
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Arg830Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS

http://identifiers.org/exac.variant/3-46713675-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713675
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713675
    reference: chr 3
allele count: 4
allele frequency: 3.314001657000828e-5
allele num: 120700
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2489G>T
  hgvsp: ENSP00000313670.4:p.Arg830Met
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.193G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.530G>T
  hgvsp: ENSP00000373248.3:p.Arg177Met
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1167G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2071G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4174G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4331G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2489G>T
  hgvsp: ENSP00000413223.1:p.Arg830Met
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2805G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.88G>T
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12609
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2336
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9820
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg830Met
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

3-46713677-G-GTCATGT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713677
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713683
    reference: chr 3
allele count: 1
allele frequency: 8.290224167661493e-6
allele num: 120624
alternate allele: GTCATGT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.190_191insACATGA
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2068_2069insACATGA
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2486_2487insACATGA
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.527_528insACATGA
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2486_2487insACATGA
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.85_86insACATGA
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12524
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9803
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val829_Arg830insHisAsp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

3-46713678-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713678
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713678
    reference: chr 3
allele count: 1
allele frequency: 8.298892927683448e-6
allele num: 120498
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.527T>A
  hgvsp: ENSP00000373248.3:p.Val176Asp
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.85T>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1164T>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4328T>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2068T>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2486T>A
  hgvsp: ENSP00000313670.4:p.Val829Asp
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.190T>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2802T>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4171T>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2486T>A
  hgvsp: ENSP00000413223.1:p.Val829Asp
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9957
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29788
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9678
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val829Asp
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-46713679-C-CCTCTG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713679
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713684
    reference: chr 3
allele count: 1
allele frequency: 8.29985724245543e-6
allele num: 120484
alternate allele: CCTCTG
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2800_*2801insCAGAG
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2066_2067insCAGAG
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2484_2485insCAGAG
  hgvsp: ENSP00000313670.4:p.Val829GlnfsTer19
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1162_*1163insCAGAG
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.525_526insCAGAG
  hgvsp: ENSP00000373248.3:p.Val176GlnfsTer19
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2484_2485insCAGAG
  hgvsp: ENSP00000413223.1:p.Val829GlnfsTer19
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.83_84insCAGAG
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4169_*4170insCAGAG
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4326_*4327insCAGAG
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.188_189insCAGAG
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 29756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12402
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 791
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2592
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val829GlnfsTer19
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

http://identifiers.org/exac.variant/3-46713680-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713680
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713680
    reference: chr 3
allele count: 312
allele frequency: 2.589813400624212e-3
allele num: 120472
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.83G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2484G>T
  hgvsp: ENST00000415953.1:c.2484G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2484G>T
  hgvsp: ENST00000318962.4:c.2484G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.525G>T
  hgvsp: ENST00000383742.3:c.525G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2066G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.188G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2800G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4326G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4169G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1162G>T
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 29732
  bin: 2.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 10082
  bin: 2.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 12373
  bin: 3.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 3.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu828Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

3-46713680-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713680
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713680
    reference: chr 3
allele count: 1
allele frequency: 8.300683976359652e-6
allele num: 120472
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.83G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.525G>A
  hgvsp: ENST00000383742.3:c.525G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2484G>A
  hgvsp: ENST00000318962.4:c.2484G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2800G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4326G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2484G>A
  hgvsp: ENST00000415953.1:c.2484G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1162G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2066G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.188G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4169G>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29732
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10082
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Leu828Leu
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

3-46713681-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713681
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713682
    reference: chr 3
allele count: 1
allele frequency: 8.300408380092301e-6
allele num: 120476
alternate allele: AT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2482_2483insA
  hgvsp: ENSP00000313670.4:p.Leu828HisfsTer38
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.81_82insA
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1160_*1161insA
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2482_2483insA
  hgvsp: ENSP00000413223.1:p.Leu828HisfsTer38
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4167_*4168insA
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2064_2065insA
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4324_*4325insA
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2798_*2799insA
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.523_524insA
  hgvsp: ENSP00000373248.3:p.Leu175HisfsTer38
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.186_187insA
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29863
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10153
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu828HisfsTer38
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

3-46713683-G-GTGTACCTCTGCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713683
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713695
    reference: chr 3
allele count: 1
allele frequency: 8.308546170591069e-6
allele num: 120358
alternate allele: GTGTACCTCTGCA
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: inframe insertion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10162
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2245
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29698
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser827_Leu828insAlaGluValHis
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

3-46713684-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713684
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713684
    reference: chr 3
allele count: 1
allele frequency: 8.317114959162966e-6
allele num: 120234
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2796C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2480C>A
  hgvsp: ENSP00000313670.4:p.Ser827Tyr
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2062C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1158C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.521C>A
  hgvsp: ENSP00000373248.3:p.Ser174Tyr
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4322C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2480C>A
  hgvsp: ENSP00000413223.1:p.Ser827Tyr
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4165C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.184C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.79C>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12243
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10124
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser827Tyr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-46713687-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713687
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713687
    reference: chr 3
allele count: 2
allele frequency: 1.664863065012903e-5
allele num: 120130
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1155A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.181A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4162A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4319A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2477A>G
  hgvsp: ENSP00000313670.4:p.Tyr826Cys
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.518A>G
  hgvsp: ENSP00000373248.3:p.Tyr173Cys
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2793A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2059A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.76A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2477A>G
  hgvsp: ENSP00000413223.1:p.Tyr826Cys
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12106
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29294
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4097
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr826Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

3-46713694-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713694
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713694
    reference: chr 3
allele count: 12
allele frequency: 1.002757583354224e-4
allele num: 119670
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1151-3C>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.177-3C>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4158-3C>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2473-3C>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.72-3C>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2789-3C>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2055-3C>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.514-3C>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4315-3C>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2473-3C>G
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10206
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28501
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11713
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2473-3C>G
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

3-46713695-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713695
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713695
    reference: chr 3
allele count: 1
allele frequency: 8.358548287333457e-6
allele num: 119638
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.514-4G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.177-4G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4315-4G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1151-4G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2789-4G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2473-4G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.72-4G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2473-4G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2055-4G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4158-4G>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28507
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2473-4G>A
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: VQSLOD

3-46713699-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713699
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713699
    reference: chr 3
allele count: 1
allele frequency: 8.400678774845007e-6
allele num: 119038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2055-8C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2473-8C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.177-8C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4158-8C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.72-8C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1151-8C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4315-8C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2789-8C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2473-8C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.514-8C>T
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11273
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2473-8C>T
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

3-46713703-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713703
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713703
    reference: chr 3
allele count: 2
allele frequency: 1.681746325384279e-5
allele num: 118924
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4158-12T>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1151-12T>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.177-12T>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2055-12T>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4315-12T>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2789-12T>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.514-12T>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2473-12T>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.72-12T>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2473-12T>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27319
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11017
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8819
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

3-46713708-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713708
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713708
    reference: chr 3
allele count: 1
allele frequency: 8.452799567216662e-6
allele num: 118304
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2789-17C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4315-17C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.514-17C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2055-17C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.177-17C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1151-17C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.72-17C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4158-17C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2473-17C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2473-17C>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25884
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

3-46713709-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713709
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713709
    reference: chr 3
allele count: 1
allele frequency: 8.466683600033867e-6
allele num: 118110
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4315-18A>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.177-18A>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.514-18A>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1151-18A>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2055-18A>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2789-18A>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2473-18A>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2473-18A>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4158-18A>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.72-18A>T
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25081
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9289
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

3-46713716-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713716
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713716
    reference: chr 3
allele count: 1
allele frequency: 8.518468038707919e-6
allele num: 117392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2473-25C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.177-25C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.514-25C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4315-25C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2473-25C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1151-25C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4158-25C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.72-25C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2055-25C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2789-25C>T
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8645
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22137
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8921
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6751
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 997
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS

http://identifiers.org/exac.variant/3-46713725-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713725
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713725
    reference: chr 3
allele count: 2
allele frequency: 1.720726146433795e-5
allele num: 116230
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4158-34T>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2473-34T>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4315-34T>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.177-34T>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.72-34T>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2473-34T>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.514-34T>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2055-34T>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1151-34T>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2789-34T>G
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11904
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12079
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15196
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7989
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

3-46713730-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713730
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713730
    reference: chr 3
allele count: 3
allele frequency: 2.605252188411838e-5
allele num: 115152
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4158-39G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2473-39G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2473-39G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.514-39G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1151-39G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.177-39G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2055-39G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4315-39G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.72-39G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2789-39G>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1281
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4487
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7825
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12804
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3738
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD

3-46713736-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713736
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713736
    reference: chr 3
allele count: 3
allele frequency: 2.629825730214944e-5
allele num: 114076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.514-45C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.72-45C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.177-45C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1151-45C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2789-45C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4315-45C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4158-45C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2473-45C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2055-45C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2473-45C>T
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12227
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17246
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10243
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4911
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6842
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 477
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: G
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-46713736-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46713736
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46713736
    reference: chr 3
allele count: 2
allele frequency: 1.753217153476629e-5
allele num: 114076
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4158-45C>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2055-45C>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2473-45C>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1151-45C>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.177-45C>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.514-45C>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2473-45C>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2789-45C>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.72-45C>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4315-45C>G
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10243
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17246
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff

3-46714788-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46714788
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46714788
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 22110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.71+41G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1150+41G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.513+41G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.176+41G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4314+41G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2472+41G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2788+41G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2054+41G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2472+41G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4157+41G>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15504
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2096
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2942
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 705
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5782
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: MQRankSum

3-46714797-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46714797
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46714797
    reference: chr 3
allele count: 7872
allele frequency: 3.33446289393426e-1
allele num: 23608
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.176+32G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2472+32G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4157+32G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2054+32G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.71+32G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1150+32G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.513+32G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2472+32G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4314+32G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2788+32G>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 2.25e1
  variant carriers: 965
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 8.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 1.25e1
  variant carriers: 1129
genotype depth: GenotypeDepth
  all individuals: 2354
  bin: 2.75e1
  variant carriers: 1044
genotype depth: GenotypeDepth
  all individuals: 22802
  bin: 2.5e0
  variant carriers: 3704
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 3.25e1
  variant carriers: 867
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 3.75e1
  variant carriers: 617
genotype depth: GenotypeDepth
  all individuals: 19871
  bin: 7.5e0
  variant carriers: 5769
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 172
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 4.75e1
  variant carriers: 265
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 403
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 1.75e1
  variant carriers: 661
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 6.25e1
  variant carriers: 97
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 8.75e1
  variant carriers: 487
genotype quality: GenotypeQuality
  all individuals: 9741
  bin: 2.5e0
  variant carriers: 98
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 2.75e1
  variant carriers: 562
num of homozygotes: 1261
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS

3-46714801-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46714801
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46714801
    reference: chr 3
allele count: 1
allele frequency: 4.191114836546522e-5
allele num: 23860
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1150+28A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2472+28A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.176+28A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.71+28A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4157+28A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2054+28A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.513+28A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2472+28A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2788+28A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4314+28A>G
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25724
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2670
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19422
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2229
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 860
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

3-46714805-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46714805
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46714805
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 23958
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1150+24A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.71+24A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4157+24A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2054+24A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4314+24A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2472+24A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2788+24A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2472+24A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.513+24A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.176+24A>G
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 853
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19973
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 512
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1489
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13747
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

3-46714810-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46714810
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46714810
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 24062
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4314+19C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1150+19C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2054+19C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2788+19C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.513+19C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.176+19C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2472+19C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2472+19C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.71+19C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4157+19C>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2996
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24973
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20570
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ

3-46714811-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46714811
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46714811
    reference: chr 3
allele count: 2
allele frequency: 8.31739166597355e-5
allele num: 24046
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2472+18G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.176+18G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2054+18G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2788+18G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4314+18G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.513+18G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.71+18G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2472+18G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4157+18G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1150+18G>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2554
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24829
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20676
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: QD

3-46714814-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46714814
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46714813
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 24180
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2472+14delC
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.71+14delC
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2054+14delC
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4314+14delC
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.513+14delC
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1150+14delC
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.176+14delC
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2472+14delC
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2788+14delC
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4157+14delC
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1999
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24448
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21227
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3678
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: TG
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

3-46714816-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46714816
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46714816
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 24228
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2054+13C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.513+13C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2472+13C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2472+13C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2788+13C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1150+13C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4157+13C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4314+13C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.71+13C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.176+13C>T
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21609
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24124
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3777
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

3-46714817-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46714817
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46714817
    reference: chr 3
allele count: 3
allele frequency: 1.236297700486277e-4
allele num: 24266
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2472+12G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.513+12G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1150+12G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.71+12G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2054+12G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4157+12G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2472+12G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4314+12G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.176+12G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2788+12G>C
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23978
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21760
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3791
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/3-46714820-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46714820
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46714820
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 24448
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.176+9G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4157+9G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4314+9G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2472+9G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2472+9G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2054+9G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.71+9G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1150+9G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.513+9G>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2788+9G>T
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3194
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23391
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22396
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP

3-46714821-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46714821
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46714821
    reference: chr 3
allele count: 9771
allele frequency: 3.548187958457404e-1
allele num: 27538
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.513+8G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.176+8G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2472+8G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4157+8G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2472+8G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2054+8G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1150+8G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4314+8G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.71+8G>C
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2788+8G>C
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 3867
  bin: 1.25e1
  variant carriers: 2352
genotype depth: GenotypeDepth
  all individuals: 2221
  bin: 2.25e1
  variant carriers: 373
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 3.75e1
  variant carriers: 783
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.75e1
  variant carriers: 492
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 3.25e1
  variant carriers: 719
genotype depth: GenotypeDepth
  all individuals: 17387
  bin: 2.5e0
  variant carriers: 2592
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 6.25e1
  variant carriers: 241
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 4.75e1
  variant carriers: 634
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 747
genotype depth: GenotypeDepth
  all individuals: 24435
  bin: 7.5e0
  variant carriers: 7147
genotype depth: GenotypeDepth
  all individuals: 1981
  bin: 2.75e1
  variant carriers: 502
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 132
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 5.25e1
  variant carriers: 462
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.25e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 9.75e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.25e1
  variant carriers: 78
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 5.75e1
  variant carriers: 370
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 6.75e1
  variant carriers: 171
genotype quality: GenotypeQuality
hgvs: c.2472+8G>C
num of homozygotes: 1450
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

3-46714831-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46714831
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46714831
    reference: chr 3
allele count: 0
allele frequency: 0.0e0
allele num: 25634
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2470C>A
  hgvsp: ENSP00000413223.1:p.Gln824Lys
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2052C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4155C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2470C>A
  hgvsp: ENSP00000313670.4:p.Gln824Lys
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4312C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.174C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.511C>A
  hgvsp: ENSP00000373248.3:p.Gln171Lys
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.69C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2786C>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1148C>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3621
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21841
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2380
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23994
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln824Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

3-46714838-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46714838
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46714838
    reference: chr 3
allele count: 2
allele frequency: 7.819831091648421e-5
allele num: 25576
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2045G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4148G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2463G>A
  hgvsp: ENST00000415953.1:c.2463G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2463G>A
  hgvsp: ENST00000318962.4:c.2463G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.504G>A
  hgvsp: ENST00000383742.3:c.504G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.167G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1141G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.62G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2779G>A
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4305G>A
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2943
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24100
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21894
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5703
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 861
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr821Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

3-46714845-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46714845
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46714845
    reference: chr 3
allele count: 3
allele frequency: 1.176747469992939e-4
allele num: 25494
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4141C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.497C>T
  hgvsp: ENSP00000373248.3:p.Thr166Met
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2772C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4298C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2456C>T
  hgvsp: ENSP00000413223.1:p.Thr819Met
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.55C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2456C>T
  hgvsp: ENSP00000313670.4:p.Thr819Met
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1134C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2038C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.160C>T
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22310
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2960
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1340
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr819Met
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: QD

3-46714861-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46714861
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46714861
    reference: chr 3
allele count: 1
allele frequency: 4.021555537681976e-5
allele num: 24866
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1118C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2440C>T
  hgvsp: ENSP00000313670.4:p.Pro814Ser
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.481C>T
  hgvsp: ENSP00000373248.3:p.Pro161Ser
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2022C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.39C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4125C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2440C>T
  hgvsp: ENSP00000413223.1:p.Pro814Ser
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.144C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4282C>T
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2756C>T
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24707
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21217
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro814Ser
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

3-46714878-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 46714878
    reference: chr 3
  end: Position
    type: ExactPosition
    position: 46714878
    reference: chr 3
allele count: 17
allele frequency: 7.002224235933768e-4
allele num: 24278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000486301
  gene symbol: ALS2CL
  hgvsc: ENST00000486301.1:n.2012-7A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395749
  ensembl transcript: ENST00000423707
  gene symbol: ALS2CL
  hgvsc: ENST00000423707.1:c.*2746-7A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000405335
  ensembl transcript: ENST00000434140
  gene symbol: ALS2CL
  hgvsc: ENST00000434140.1:c.*1108-7A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000473484
  gene symbol: ALS2CL
  hgvsc: ENST00000473484.1:n.29-7A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000313670
  ensembl transcript: ENST00000318962
  gene symbol: ALS2CL
  hgvsc: ENST00000318962.4:c.2430-7A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000416575
  ensembl transcript: ENST00000431015
  gene symbol: ALS2CL
  hgvsc: ENST00000431015.1:c.*4115-7A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000395663
  ensembl transcript: ENST00000450172
  gene symbol: ALS2CL
  hgvsc: ENST00000450172.1:c.*4272-7A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000373248
  ensembl transcript: ENST00000383742
  gene symbol: ALS2CL
  hgvsc: ENST00000383742.3:c.471-7A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl protein: ENSP00000413223
  ensembl transcript: ENST00000415953
  gene symbol: ALS2CL
  hgvsc: ENST00000415953.1:c.2430-7A>G
  variant of: http://identifiers.org/hgnc/20605
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000178038
  ensembl transcript: ENST00000498817
  gene symbol: ALS2CL
  hgvsc: ENST00000498817.1:n.134-7A>G
  variant of: http://identifiers.org/hgnc/20605
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2156
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27823
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17969
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
hgvs: c.2430-7A>G
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 67
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3457
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4050
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28483
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5599
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2150
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

FS
type: SiteQuality
SIO_000300: 3.822e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.9e-2

DP
type: SiteQuality
SIO_000300: 3.060186e6

QD
type: SiteQuality
SIO_000300: 1.283e1

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

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2150
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11536
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4053
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3240
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28485
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5596
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3460
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1751
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998860433035446e-5
allele num: 66692
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.49e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.439e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 3.060205e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.5e1

FS
type: SiteQuality
SIO_000300: 6.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.266e0

GenotypeQuality
all individuals: 28497
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 5588
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11476
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3462
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2152
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3249
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4058
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1749
bin: 8.75e1
variant carriers: 0

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

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

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.641548565502938e-5
allele num: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 16
allele frequency: 9.69227041434456e-4
allele num: 16508
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.228e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

DP
type: SiteQuality
SIO_000300: 3.06014e6

QD
type: SiteQuality
SIO_000300: 1.141e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.673e0

GenotypeQuality
all individuals: 4059
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28492
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5587
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3471
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11429
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1752
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.932e0

FS
type: SiteQuality
SIO_000300: 1.165e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-1

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e0

DP
type: SiteQuality
SIO_000300: 3.06003e6

MQRankSum
type: SiteQuality
SIO_000300: -2.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11377
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1755
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3473
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2153
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4057
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5600
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.467406380027739e-4
allele num: 8652
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.84e0

MQRankSum
type: SiteQuality
SIO_000300: 4.69e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.337e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.47e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

DP
type: SiteQuality
SIO_000300: 3.060317e6

VQSLOD
type: SiteQuality
SIO_000300: 1.75e0

GenotypeQuality
all individuals: 11242
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2163
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 83
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3494
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5597
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1759
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4078
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 7
allele frequency: 6.049083995852057e-4
allele num: 11572
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.36e0

FS
type: SiteQuality
SIO_000300: 5.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

QD
type: SiteQuality
SIO_000300: 1.611e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.28e0

MQRankSum
type: SiteQuality
SIO_000300: 8.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 3.06124e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.88e-1

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

GenotypeQuality
all individuals: 3253
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3494
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1756
bin: 8.75e1
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: 0

South Asian
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num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 904
num of homozygotes: 0

Latino
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allele count: 8
allele frequency: 6.91323885240235e-4
allele num: 11572
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 frequency: 0.0e0
allele num: 10402
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European (Non-Finnish)
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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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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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QD
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MQRankSum
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MQ
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DP
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ClippingRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 8652
num of homozygotes: 0

Other
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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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num of homozygotes: 0

Latino
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allele frequency: 2.592464569650881e-4
allele num: 11572
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66700
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InbreedingCoeff
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DP
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QD
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MQ
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MQRankSum
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ClippingRankSum
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FS
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BaseQRankSum
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SIO_000300: -5.108e0

ReadPosRankSum
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SIO_000300: 1.05e-1

VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
allele num: 11570
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South Asian
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allele frequency: 0.0e0
allele num: 16502
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 5.433526011560694e-3
allele num: 8650
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African
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European (Non-Finnish)
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Other
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FS
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InbreedingCoeff
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QD
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MQRankSum
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DP
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MQ
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

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

Latino
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VQSLOD
type: SiteQuality
SIO_000300: 6.81e-1

BaseQRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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SIO_000300: 2.7e-3

MQRankSum
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QD
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MQ
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ReadPosRankSum
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SIO_000300: -6.54e-1

DP
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 3.847633705271258e-4
allele num: 10396
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

East Asian
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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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allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

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

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

African
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European (Finnish)
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Latino
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South Asian
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Other
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European (Non-Finnish)
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allele num: 66694
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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QD
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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Other
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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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ReadPosRankSum
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InbreedingCoeff
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QD
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FS
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MQ
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DP
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BaseQRankSum
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VQSLOD
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MQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37716
bin: 6.25e1
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GenotypeQuality
all individuals: 1391
bin: 8.25e1
variant carriers: 0

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

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

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

European (Finnish)
type: Population
allele count: 3
allele frequency: 4.541326067211626e-4
allele num: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.349487194865951e-4
allele num: 66692
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817520901490367e-4
allele num: 16506
num of homozygotes: 1

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: 2.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

FS
type: SiteQuality
SIO_000300: 3.219e0

VQSLOD
type: SiteQuality
SIO_000300: 9.330000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.4e-1

QD
type: SiteQuality
SIO_000300: 1.43e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.19e-2

DP
type: SiteQuality
SIO_000300: 1.897001e6

GenotypeQuality
all individuals: 4391
bin: 9.75e1
variant carriers: 31

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.75e1
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GenotypeQuality
all individuals: 60
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 30
allele frequency: 1.817520901490367e-3
allele num: 16506
num of homozygotes: 1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.264e-1

FS
type: SiteQuality
SIO_000300: 1.0722e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e-1

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 1.357e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.179e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.34e-2

DP
type: SiteQuality
SIO_000300: 1.895858e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.16e-1

GenotypeQuality
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bin: 7.5e0
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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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.99895036737142e-5
allele num: 66690
num of homozygotes: 0

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

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.07e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.53e-1

DP
type: SiteQuality
SIO_000300: 1.894669e6

FS
type: SiteQuality
SIO_000300: 7.919e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

QD
type: SiteQuality
SIO_000300: 1.016e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 8.382e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.64e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

DP
type: SiteQuality
SIO_000300: 1.894381e6

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.632e0

QD
type: SiteQuality
SIO_000300: 1.142e1

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2766
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66696
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.73e-1

FS
type: SiteQuality
SIO_000300: 8.382e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.632e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.64e-1

QD
type: SiteQuality
SIO_000300: 1.142e1

MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

DP
type: SiteQuality
SIO_000300: 1.894381e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.609e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.894185e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

FS
type: SiteQuality
SIO_000300: 2.248e0

QD
type: SiteQuality
SIO_000300: 1.291e1

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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variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499295331194339e-5
allele num: 66698
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

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

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

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

FS
type: SiteQuality
SIO_000300: 2.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.87e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.14e-1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.777e1

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.421e0

QD
type: SiteQuality
SIO_000300: 1.92e1

MQRankSum
type: SiteQuality
SIO_000300: 3.07e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 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: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.81e-1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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MQRankSum
type: SiteQuality
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BaseQRankSum
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QD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 66688
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African
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Latino
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Other
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East Asian
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South Asian
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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DP
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VQSLOD
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MQRankSum
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MQ
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FS
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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QD
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ClippingRankSum
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FS
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BaseQRankSum
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DP
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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South Asian
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East Asian
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Other
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MQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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MQ
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ReadPosRankSum
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QD
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ClippingRankSum
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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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GenotypeQuality
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Other
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Latino
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European (Non-Finnish)
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East Asian
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South Asian
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European (Finnish)
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African
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DP
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQ
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MQRankSum
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BaseQRankSum
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FS
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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Latino
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Other
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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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QD
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ClippingRankSum
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VQSLOD
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DP
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BaseQRankSum
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ReadPosRankSum
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Latino
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Other
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QD
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VQSLOD
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MQRankSum
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DP
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FS
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MQ
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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European (Finnish)
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South Asian
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Latino
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African
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East Asian
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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DP
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FS
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MQ
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InbreedingCoeff
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MQRankSum
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QD
type: SiteQuality
SIO_000300: 1.176e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.52e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4301
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variant carriers: 9

GenotypeQuality
all individuals: 595
bin: 9.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 7
allele frequency: 4.240368306275745e-4
allele num: 16508
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.92789666473877e-4
allele num: 10374
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.298e1

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

DP
type: SiteQuality
SIO_000300: 1.88914e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.36e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504483360414034e-5
allele num: 66468
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 7.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
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SIO_000300: -5.639999999999999e-1

BaseQRankSum
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SIO_000300: -2.187e0

DP
type: SiteQuality
SIO_000300: 1.872702e6

QD
type: SiteQuality
SIO_000300: 8.859999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.019382411364594e-5
allele num: 66452
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

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

African
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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
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num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.705e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.870999e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.219e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.424e0

MQRankSum
type: SiteQuality
SIO_000300: -4.17e-1

QD
type: SiteQuality
SIO_000300: 1.323e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505479947007106e-5
allele num: 66424
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.8675e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.533e0

MQ
type: SiteQuality
SIO_000300: 5.303e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

QD
type: SiteQuality
SIO_000300: 3.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -4.26e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.0e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

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

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6416
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506841058405159e-5
allele num: 66364
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.777e0

MQRankSum
type: SiteQuality
SIO_000300: -9.429999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.717e1

DP
type: SiteQuality
SIO_000300: 1.862468e6

VQSLOD
type: SiteQuality
SIO_000300: -2.124e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.92e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.623e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506795648374167e-5
allele num: 66366
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8640
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MQRankSum
type: SiteQuality
SIO_000300: -2.133e0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.303e1

GenotypeQuality
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bin: 6.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4402
bin: 9.75e1
variant carriers: 311

Latino
type: Population
allele count: 1
allele frequency: 8.698677800974252e-5
allele num: 11496
num of homozygotes: 0

South Asian
type: Population
allele count: 35
allele frequency: 2.135709055406395e-3
allele num: 16388
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 236
allele frequency: 3.556466439615419e-3
allele num: 66358
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.237136465324385e-3
allele num: 894
num of homozygotes: 0

European (Finnish)
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allele count: 27
allele frequency: 4.213483146067416e-3
allele num: 6408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
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allele count: 11
allele frequency: 1.069206842923795e-3
allele num: 10288
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VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 2.048e0

BaseQRankSum
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SIO_000300: -2.135e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

MQRankSum
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ReadPosRankSum
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SIO_000300: 1.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.21e-1

QD
type: SiteQuality
SIO_000300: 1.2e1

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
all individuals: 267
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506977304921788e-5
allele num: 66358
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.861981e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.135e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

QD
type: SiteQuality
SIO_000300: 1.2e1

FS
type: SiteQuality
SIO_000300: 2.048e0

VQSLOD
type: SiteQuality
SIO_000300: 2.79e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.21e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506977304921788e-5
allele num: 66358
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6408
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 6.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.855e0

VQSLOD
type: SiteQuality
SIO_000300: 1.8e0

MQ
type: SiteQuality
SIO_000300: 5.245e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.854643e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.7e-2

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.508341126429153e-5
allele num: 66298
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
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: 6398
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.850386e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.855e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.546e0

QD
type: SiteQuality
SIO_000300: 1.68e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.237e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.49e-1

MQ
type: SiteQuality
SIO_000300: 5.245e1

VQSLOD
type: SiteQuality
SIO_000300: -8.804999999999999e-1

GenotypeQuality
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bin: 5.75e1
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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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6376
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66236
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.113964294448521e-5
allele num: 16356
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.171e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.149e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.845358e6

FS
type: SiteQuality
SIO_000300: 2.52e0

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 5.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.32e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.48e-1

GenotypeQuality
all individuals: 140
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variant carriers: 0

GenotypeQuality
all individuals: 8
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1252
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.021148036253776e-5
allele num: 66200
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6362
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 9.68e0

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 3.782e0

MQRankSum
type: SiteQuality
SIO_000300: 3.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.09e-1

DP
type: SiteQuality
SIO_000300: 1.839027e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

GenotypeQuality
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bin: 5.25e1
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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variant carriers: 12

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16250
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.81889835389699e-4
allele num: 65974
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.67e-1

FS
type: SiteQuality
SIO_000300: 4.85e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.26e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

VQSLOD
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MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

QD
type: SiteQuality
SIO_000300: 1.411e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.817806e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.08e-1

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10176
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6312
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.156119182467373e-5
allele num: 16244
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.816917e6

VQSLOD
type: SiteQuality
SIO_000300: 9.389999999999999e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6264
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.765778401122019e-5
allele num: 11408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10124
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8582
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South Asian
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allele count: 0
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VQSLOD
type: SiteQuality
SIO_000300: -5.977e-1

FS
type: SiteQuality
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QD
type: SiteQuality
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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DP
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ClippingRankSum
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MQ
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -1.226e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

European (Finnish)
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allele count: 0
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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: 3.049617273032235e-5
allele num: 65582
num of homozygotes: 0

Latino
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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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South Asian
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FS
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QD
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MQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ClippingRankSum
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.228977201943441e-5
allele num: 16054
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European (Finnish)
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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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Latino
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VQSLOD
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InbreedingCoeff
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ReadPosRankSum
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QD
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ClippingRankSum
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FS
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MQ
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MQRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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Other
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num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.534919416730622e-5
allele num: 65150
num of homozygotes: 0

QD
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FS
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MQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.54354335813293e-5
allele num: 64786
num of homozygotes: 0

African
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num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -8.0e-4

QD
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MQRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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DP
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 7.258e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

African
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South Asian
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Latino
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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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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.113906707355048e-5
allele num: 64228
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.248e1

FS
type: SiteQuality
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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ClippingRankSum
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VQSLOD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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Latino
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European (Non-Finnish)
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allele num: 63648
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African
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South Asian
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Other
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MQ
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FS
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BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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MQRankSum
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 (Non-Finnish)
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Latino
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European (Finnish)
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East Asian
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African
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Other
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DP
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FS
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QD
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InbreedingCoeff
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MQ
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VQSLOD
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MQRankSum
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BaseQRankSum
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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South Asian
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African
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European (Non-Finnish)
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Latino
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Other
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East Asian
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VQSLOD
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ClippingRankSum
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QD
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FS
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DP
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ReadPosRankSum
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MQRankSum
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MQ
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BaseQRankSum
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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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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 196
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7566
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.78e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.70595e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.79e-1

QD
type: SiteQuality
SIO_000300: 7.46e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 587
bin: 8.25e1
variant carriers: 432

GenotypeQuality
all individuals: 2662
bin: 1.75e1
variant carriers: 1062

GenotypeQuality
all individuals: 2747
bin: 6.25e1
variant carriers: 635

GenotypeQuality
all individuals: 3102
bin: 1.25e1
variant carriers: 935

GenotypeQuality
all individuals: 250
bin: 4.25e1
variant carriers: 176

GenotypeQuality
all individuals: 606
bin: 5.75e1
variant carriers: 553

GenotypeQuality
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bin: 4.75e1
variant carriers: 276

GenotypeQuality
all individuals: 14603
bin: 7.5e0
variant carriers: 1642

GenotypeQuality
all individuals: 8000
bin: 2.25e1
variant carriers: 555

GenotypeQuality
all individuals: 1078
bin: 6.75e1
variant carriers: 555

GenotypeQuality
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bin: 7.25e1
variant carriers: 309

GenotypeQuality
all individuals: 721
bin: 3.25e1
variant carriers: 411

GenotypeQuality
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bin: 9.75e1
variant carriers: 6085

GenotypeQuality
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bin: 5.25e1
variant carriers: 420

GenotypeQuality
all individuals: 514
bin: 7.75e1
variant carriers: 303

GenotypeQuality
all individuals: 335
bin: 3.75e1
variant carriers: 144

GenotypeQuality
all individuals: 577
bin: 9.25e1
variant carriers: 475

European (Finnish)
type: Population
allele count: 84
allele frequency: 3.925233644859813e-1
allele num: 214
num of homozygotes: 12

Latino
type: Population
allele count: 290
allele frequency: 3.341013824884793e-1
allele num: 868
num of homozygotes: 30

Other
type: Population
allele count: 62
allele frequency: 3.131313131313131e-1
allele num: 198
num of homozygotes: 10

South Asian
type: Population
allele count: 3161
allele frequency: 4.045303301766061e-1
allele num: 7814
num of homozygotes: 640

African
type: Population
allele count: 566
allele frequency: 1.879150066401062e-1
allele num: 3012
num of homozygotes: 44

East Asian
type: Population
allele count: 307
allele frequency: 3.536866359447005e-1
allele num: 868
num of homozygotes: 45

European (Non-Finnish)
type: Population
allele count: 3402
allele frequency: 3.199172465676133e-1
allele num: 10634
num of homozygotes: 480

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.204e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.225e0

QD
type: SiteQuality
SIO_000300: 1.697e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.42126e5

FS
type: SiteQuality
SIO_000300: 1.366e0

GenotypeQuality
all individuals: 1064
bin: 6.75e1
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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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 916
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3034
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10732
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.27000254000508e-4
allele num: 7874
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

DP
type: SiteQuality
SIO_000300: 5.4014e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.84e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.522e1

VQSLOD
type: SiteQuality
SIO_000300: -2.075e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
all individuals: 416
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21906
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.25e1
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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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: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 35
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 720
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variant carriers: 0

GenotypeQuality
all individuals: 861
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1110
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 922
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3044
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10768
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -6.429e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.705e1

MQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

QD
type: SiteQuality
SIO_000300: 2.26e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.86e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 5.46078e5

GenotypeQuality
all individuals: 726
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 317
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variant carriers: 0

GenotypeQuality
all individuals: 14417
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variant carriers: 0

GenotypeQuality
all individuals: 117
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variant carriers: 0

GenotypeQuality
all individuals: 105
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variant carriers: 0

GenotypeQuality
all individuals: 4682
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variant carriers: 0

GenotypeQuality
all individuals: 21665
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variant carriers: 0

GenotypeQuality
all individuals: 153
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variant carriers: 0

GenotypeQuality
all individuals: 751
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variant carriers: 0

GenotypeQuality
all individuals: 3881
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variant carriers: 0

GenotypeQuality
all individuals: 3568
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 633
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variant carriers: 0

GenotypeQuality
all individuals: 419
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variant carriers: 0

GenotypeQuality
all individuals: 485
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variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 934
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.87e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.161e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.52261e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 4.58e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 118
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21466
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13941
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 631
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2232
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3497
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variant carriers: 1

GenotypeQuality
all individuals: 4382
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4663
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1258
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GenotypeQuality
all individuals: 728
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variant carriers: 0

GenotypeQuality
all individuals: 1113
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
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GenotypeQuality
all individuals: 101
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GenotypeQuality
all individuals: 419
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GenotypeQuality
all individuals: 317
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3066
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 936
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.852194850898315e-4
allele num: 10798
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 216
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.455e0

MQRankSum
type: SiteQuality
SIO_000300: -4.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.022e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.214e0

DP
type: SiteQuality
SIO_000300: 5.53502e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

QD
type: SiteQuality
SIO_000300: 3.135e1

GenotypeQuality
all individuals: 974
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15296
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3765
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 115
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GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10876
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3084
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 912
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 5.58798e5

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 7.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
type: SiteQuality
SIO_000300: 5.87e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 842
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 954
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3088
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7928
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.25e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 5.62465e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.65e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.713000000000001e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 2

GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 1

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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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 829
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 712
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.211991434689507e-3
allele num: 934
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3090
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10916
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.53e-2

FS
type: SiteQuality
SIO_000300: 6.155e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

QD
type: SiteQuality
SIO_000300: 9.32e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 5.64483e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 426
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3639
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 718
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3849
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20939
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 752
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2236
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3758
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 836
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16878
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3112
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 946
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7956
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 964
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11028
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.038e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.43e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.3e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.70163e5

GenotypeQuality
all individuals: 607
bin: 7.25e1
variant carriers: 398

GenotypeQuality
all individuals: 603
bin: 8.25e1
variant carriers: 440

GenotypeQuality
all individuals: 204
bin: 3.75e1
variant carriers: 130

GenotypeQuality
all individuals: 619
bin: 8.75e1
variant carriers: 531

GenotypeQuality
all individuals: 11582
bin: 2.25e1
variant carriers: 911

GenotypeQuality
all individuals: 1173
bin: 6.75e1
variant carriers: 597

GenotypeQuality
all individuals: 2675
bin: 1.75e1
variant carriers: 1407

GenotypeQuality
all individuals: 611
bin: 3.25e1
variant carriers: 435

GenotypeQuality
all individuals: 8361
bin: 9.75e1
variant carriers: 7876

GenotypeQuality
all individuals: 12055
bin: 7.5e0
variant carriers: 1115

GenotypeQuality
all individuals: 1949
bin: 1.25e1
variant carriers: 957

GenotypeQuality
all individuals: 9386
bin: 2.5e0
variant carriers: 30

GenotypeQuality
all individuals: 801
bin: 2.75e1
variant carriers: 547

GenotypeQuality
all individuals: 339
bin: 5.25e1
variant carriers: 301

GenotypeQuality
all individuals: 632
bin: 7.75e1
variant carriers: 417

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 106

GenotypeQuality
all individuals: 680
bin: 9.25e1
variant carriers: 576

GenotypeQuality
all individuals: 221
bin: 4.75e1
variant carriers: 193

GenotypeQuality
all individuals: 3262
bin: 6.25e1
variant carriers: 616

GenotypeQuality
all individuals: 541
bin: 5.75e1
variant carriers: 516

South Asian
type: Population
allele count: 3288
allele frequency: 4.050258684405026e-1
allele num: 8118
num of homozygotes: 662

East Asian
type: Population
allele count: 461
allele frequency: 3.960481099656357e-1
allele num: 1164
num of homozygotes: 64

Other
type: Population
allele count: 73
allele frequency: 3.230088495575221e-1
allele num: 226
num of homozygotes: 13

African
type: Population
allele count: 664
allele frequency: 2.019464720194647e-1
allele num: 3288
num of homozygotes: 45

Latino
type: Population
allele count: 549
allele frequency: 3.989825581395349e-1
allele num: 1376
num of homozygotes: 49

European (Non-Finnish)
type: Population
allele count: 4584
allele frequency: 3.526153846153846e-1
allele num: 13000
num of homozygotes: 603

European (Finnish)
type: Population
allele count: 152
allele frequency: 4.153005464480874e-1
allele num: 366
num of homozygotes: 14

QD
type: SiteQuality
SIO_000300: 1.583e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.52e0

DP
type: SiteQuality
SIO_000300: 6.62016e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.859e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.177e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.001e0

MQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e-1

GenotypeDepth
all individuals: 262
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2302
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1369
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3196
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 76
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20587
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 433
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5621
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 619
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20294
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11844
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8032
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1036
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.71e-2

DP
type: SiteQuality
SIO_000300: 5.77586e5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

QD
type: SiteQuality
SIO_000300: 8.09e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

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

GenotypeQuality
all individuals: 20844
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1312
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 40
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
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variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 20925
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2000
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1355
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 382
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2758
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 388
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 193
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8024
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3182
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1030
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.68947457340767e-4
allele num: 11838
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.83e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.79544e5

MQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

FS
type: SiteQuality
SIO_000300: 1.27e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.850000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.31e-1

QD
type: SiteQuality
SIO_000300: 8.83e0

GenotypeQuality
all individuals: 1310
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1728
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 383
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.75e1
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GenotypeQuality
all individuals: 474
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variant carriers: 0

GenotypeQuality
all individuals: 881
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 21494
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2221
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21216
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5772
bin: 6.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.500510030601836e-5
allele num: 11764
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 298
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 986
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.492522432701894e-4
allele num: 8024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1010
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.16e-1

FS
type: SiteQuality
SIO_000300: 1.239e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.91e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.66e-1

DP
type: SiteQuality
SIO_000300: 5.78486e5

VQSLOD
type: SiteQuality
SIO_000300: 2.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.52e0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1579
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23934
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 94
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 582
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GenotypeQuality
all individuals: 18145
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variant carriers: 0

GenotypeQuality
all individuals: 418
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GenotypeQuality
all individuals: 1225
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GenotypeQuality
all individuals: 460
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GenotypeQuality
all individuals: 1308
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2708
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
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variant carriers: 0

GenotypeQuality
all individuals: 227
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variant carriers: 0

GenotypeQuality
all individuals: 5589
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
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variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7988
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 8.77963125548727e-5
allele num: 11390
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 996
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.603e-1

FS
type: SiteQuality
SIO_000300: 8.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.86e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.48e-2

QD
type: SiteQuality
SIO_000300: 1.037e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.635e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.016e0

DP
type: SiteQuality
SIO_000300: 5.60384e5