2-234227358-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227358
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227358
    reference: chr 2
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.206-39C>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.137-39C>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.76-39C>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.137-39C>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.372-39C>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.137-39C>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.47-39C>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4234C>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.308-39C>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.271-39C>G
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10150
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9232
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

http://identifiers.org/exac.variant/2-234227361-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227361
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227361
    reference: chr 2
allele count: 1
allele frequency: 8.284043275842073e-6
allele num: 120714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.372-36C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.271-36C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4231C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.137-36C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.137-36C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.206-36C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.47-36C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.137-36C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.76-36C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.308-36C>A
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10156
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9233
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12249
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3820
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

2-234227378-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227378
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227378
    reference: chr 2
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4214T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.137-19T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.271-19T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.372-19T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.47-19T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.76-19T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.137-19T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.308-19T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.206-19T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.137-19T>C
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2042
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10195
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12274
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

2-234227397-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227397
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227397
    reference: chr 2
allele count: 2
allele frequency: 1.656342134031205e-5
allele num: 120748
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.137A>G
  hgvsp: ENSP00000409475.1:p.Asp46Gly
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4195A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.137A>G
  hgvsp: ENSP00000386444.1:p.Asp46Gly
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.137A>G
  hgvsp: ENSP00000408937.1:p.Asp46Gly
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.76A>G
  hgvsp: ENSP00000404733.1:p.Met26Val
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.47A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.308A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.372A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.206A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.271A>G
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12280
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3821
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp46Gly
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

2-234227400-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227400
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227400
    reference: chr 2
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.375G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.79G>A
  hgvsp: ENSP00000404733.1:p.Val27Met
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.140G>A
  hgvsp: ENSP00000409475.1:p.Gly47Asp
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4192G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.209G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.140G>A
  hgvsp: ENSP00000386444.1:p.Gly47Asp
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.274G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.140G>A
  hgvsp: ENSP00000408937.1:p.Gly47Asp
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.50G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.311G>A
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9241
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3819
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly47Asp
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD

2-234227404-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227404
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227404
    reference: chr 2
allele count: 7
allele frequency: 5.797101449275362e-5
allele num: 120750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.54C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.315C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.144C>T
  hgvsp: ENST00000415974.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.379C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.144C>T
  hgvsp: ENST00000409110.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.83C>T
  hgvsp: ENSP00000404733.1:p.Ser28Leu
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.278C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.213C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4188C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.144C>T
  hgvsp: ENST00000447536.1:c.144C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3825
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12289
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4514
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser28Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

2-234227405-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227405
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227405
    reference: chr 2
allele count: 29
allele frequency: 2.401656314699793e-4
allele num: 120750
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.145G>A
  hgvsp: ENSP00000408937.1:p.Val49Met
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.145G>A
  hgvsp: ENSP00000386444.1:p.Val49Met
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.84G>A
  hgvsp: ENST00000453143.1:c.84G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4187G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.214G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.145G>A
  hgvsp: ENSP00000409475.1:p.Val49Met
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.279G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.380G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.55G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.316G>A
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 9.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10219
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23295
  bin: 9.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val49Met
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

2-234227405-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227405
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227405
    reference: chr 2
allele count: 3
allele frequency: 2.484472049689441e-5
allele num: 120750
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.214G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.279G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.145G>T
  hgvsp: ENSP00000409475.1:p.Val49Leu
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.145G>T
  hgvsp: ENSP00000408937.1:p.Val49Leu
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.84G>T
  hgvsp: ENST00000453143.1:c.84G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.145G>T
  hgvsp: ENSP00000386444.1:p.Val49Leu
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.380G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4187G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.316G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.55G>T
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10219
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3838
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val49Leu
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

2-234227414-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227414
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227414
    reference: chr 2
allele count: 13
allele frequency: 1.07655106164497e-4
allele num: 120756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.389G>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.93G>C
  hgvsp: ENSP00000404733.1:p.Leu31Phe
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.154G>C
  hgvsp: ENSP00000409475.1:p.Asp52His
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.64G>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4178G>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.154G>C
  hgvsp: ENSP00000408937.1:p.Asp52His
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.154G>C
  hgvsp: ENSP00000386444.1:p.Asp52His
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.288G>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.223G>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.325G>C
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12299
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10228
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3822
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7184
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3228
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6157
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Asp52His
num of homozygotes: 1
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

2-234227419-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227419
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227419
    reference: chr 2
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.330T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4173T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.98T>C
  hgvsp: ENSP00000404733.1:p.Leu33Pro
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.228T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.293T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.159T>C
  hgvsp: ENST00000415974.1:c.159T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.159T>C
  hgvsp: ENST00000447536.1:c.159T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.394T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.159T>C
  hgvsp: ENST00000409110.1:c.159T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.69T>C
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10234
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12301
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9253
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu33Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

2-234227422-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227422
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227422
    reference: chr 2
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.101T>C
  hgvsp: ENSP00000404733.1:p.Ile34Thr
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.231T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.72T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4170T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.162T>C
  hgvsp: ENST00000415974.1:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.162T>C
  hgvsp: ENST00000447536.1:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.296T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.397T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.162T>C
  hgvsp: ENST00000409110.1:c.162T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.333T>C
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile34Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/2-234227423-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227423
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227423
    reference: chr 2
allele count: 2
allele frequency: 1.656122685568547e-5
allele num: 120764
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.163C>A
  hgvsp: ENSP00000409475.1:p.Leu55Ile
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.163C>A
  hgvsp: ENSP00000408937.1:p.Leu55Ile
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.163C>A
  hgvsp: ENSP00000386444.1:p.Leu55Ile
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.102C>A
  hgvsp: ENST00000453143.1:c.102C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.334C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.73C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.398C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.232C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4169C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.297C>A
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3227
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12303
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu55Ile
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

2-234227427-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227427
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227427
    reference: chr 2
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_lost
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.106T>A
  hgvsp: ENSP00000404733.1:p.Ter36ArgextTer9
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4165T>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.402T>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.77T>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.167T>A
  hgvsp: ENSP00000386444.1:p.Val56Glu
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.167T>A
  hgvsp: ENSP00000409475.1:p.Val56Glu
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.338T>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.167T>A
  hgvsp: ENSP00000408937.1:p.Val56Glu
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.236T>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.301T>A
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ter36ArgextTer9
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

2-234227433-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227433
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227433
    reference: chr 2
allele count: 3
allele frequency: 2.484184028352821e-5
allele num: 120764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.408G>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.242G>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.344G>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.83G>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.173G>C
  hgvsp: ENSP00000386444.1:p.Gly58Ala
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*4G>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.173G>C
  hgvsp: ENSP00000408937.1:p.Gly58Ala
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.173G>C
  hgvsp: ENSP00000409475.1:p.Gly58Ala
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.307G>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4159G>C
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12305
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9252
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly58Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum

2-234227440-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227440
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227440
    reference: chr 2
allele count: 8
allele frequency: 6.624490742274187e-5
allele num: 120764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.351A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.90A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.180A>G
  hgvsp: ENST00000409110.1:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.180A>G
  hgvsp: ENST00000415974.1:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4152A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*11A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.314A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.180A>G
  hgvsp: ENST00000447536.1:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.415A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.249A>G
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9253
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12307
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: c.180A>G
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

2-234227442-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227442
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227442
    reference: chr 2
allele count: 2
allele frequency: 1.656095258599275e-5
allele num: 120766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+1G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+1G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+1G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+1G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+1G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+1G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+1G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.182G>A
  hgvsp: ENSP00000409475.1:p.Gly61Asp
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+1G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4150G>A
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1011
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3811
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7189
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23251
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
hgvs: c.181+1G>A
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

2-234227447-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227447
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227447
    reference: chr 2
allele count: 4
allele frequency: 3.312300226892566e-5
allele num: 120762
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.187A>G
  hgvsp: ENSP00000409475.1:p.Met63Val
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+6A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+6A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+6A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+6A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+6A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+6A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4145A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+6A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+6A>G
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10247
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7190
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met63Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ReadPosRankSum

2-234227456-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227456
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227456
    reference: chr 2
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+15C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+15C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+15C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.196C>T
  hgvsp: ENSP00000409475.1:p.Leu66Phe
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+15C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+15C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+15C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4136C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+15C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+15C>T
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5172
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7191
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1339
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9255
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu66Phe
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/2-234227464-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227464
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227464
    reference: chr 2
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.204A>C
  hgvsp: ENST00000415974.1:c.204A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+23A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+23A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+23A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+23A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+23A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+23A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+23A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+23A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4128A>C
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5173
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12314
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13701
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser68Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

2-234227465-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227465
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227465
    reference: chr 2
allele count: 2
allele frequency: 1.656204971927326e-5
allele num: 120758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+24G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+24G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+24G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4127G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+24G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+24G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.205G>A
  hgvsp: ENSP00000409475.1:p.Gly69Ser
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+24G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+24G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+24G>A
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3223
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3808
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5171
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12315
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7189
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10246
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2088
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23246
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly69Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

2-234227466-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227466
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227466
    reference: chr 2
allele count: 1188
allele frequency: 9.837857533248315e-3
allele num: 120758
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+25G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+25G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+25G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.206G>A
  hgvsp: ENSP00000409475.1:p.Gly69Asp
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+25G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+25G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+25G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+25G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+25G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4126G>A
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 5.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2011
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 6.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 4042
  bin: 9.75e1
  variant carriers: 585
genotype depth: GenotypeDepth
  all individuals: 9240
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 12310
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10229
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 6.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 8.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 785
  bin: 7.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 5.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 8.25e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 9.25e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 7.75e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2964
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly69Asp
num of homozygotes: 64
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-234227474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227474
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227474
    reference: chr 2
allele count: 1
allele frequency: 8.281162012653616e-6
allele num: 120756
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.214C>T
  hgvsp: ENST00000415974.1:c.214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4118C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+33C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+33C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+33C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+33C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+33C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+33C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+33C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+33C>T
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7282
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu72Leu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

2-234227477-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227477
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227477
    reference: chr 2
allele count: 1
allele frequency: 8.281162012653616e-6
allele num: 120756
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+36G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+36G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4115G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+36G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+36G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+36G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.217G>A
  hgvsp: ENSP00000409475.1:p.Gly73Ser
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+36G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+36G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+36G>A
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 744
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3220
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2060
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12504
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22732
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly73Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-234227479-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227479
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227479
    reference: chr 2
allele count: 10
allele frequency: 8.281299170213823e-5
allele num: 120754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.219C>T
  hgvsp: ENST00000415974.1:c.219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+38C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+38C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+38C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4113C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+38C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+38C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+38C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+38C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+38C>T
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12502
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10373
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7280
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3218
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 745
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9377
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly73Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

2-234227480-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227480
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227480
    reference: chr 2
allele count: 40
allele frequency: 3.312574532926991e-4
allele num: 120752
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+39G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+39G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+39G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.220G>A
  hgvsp: ENSP00000409475.1:p.Gly74Arg
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+39G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+39G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+39G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4112G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+39G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+39G>A
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5201
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7280
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2013
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3219
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3653
  bin: 9.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10375
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6253
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3476
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly74Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

2-234227482-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227482
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227482
    reference: chr 2
allele count: 1
allele frequency: 8.281024859636628e-6
allele num: 120758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+41A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.222A>T
  hgvsp: ENST00000415974.1:c.222A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+41A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+41A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+41A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4110A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+41A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+41A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+41A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+41A>T
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12503
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10386
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7279
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3225
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6258
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly74Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ

2-234227500-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227500
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227500
    reference: chr 2
allele count: 2
allele frequency: 1.658182300562124e-5
allele num: 120614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+59C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+59C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+59C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+59C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+59C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+59C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.240C>T
  hgvsp: ENST00000415974.1:c.240C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4092C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+59C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+59C>T
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9068
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7102
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12173
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5933
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2830
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly80Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

2-234227503-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227503
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227503
    reference: chr 2
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+62C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+62C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+62C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+62C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+62C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.243C>T
  hgvsp: ENST00000415974.1:c.243C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+62C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+62C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4089C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+62C>T
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8994
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3209
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly81Gly
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP

2-234227504-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227504
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227504
    reference: chr 2
allele count: 1
allele frequency: 8.294487483618387e-6
allele num: 120562
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+63T>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+63T>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+63T>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+63T>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+63T>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+63T>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.244T>G
  hgvsp: ENSP00000409475.1:p.Ser82Ala
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+63T>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4088T>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+63T>G
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2047
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 743
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8971
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11907
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4071
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser82Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

2-234227507-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227507
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227507
    reference: chr 2
allele count: 288
allele frequency: 2.390755744454775e-3
allele num: 120464
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+66G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+66G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.247G>A
  hgvsp: ENSP00000409475.1:p.Gly83Arg
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+66G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+66G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+66G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+66G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+66G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+66G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4085G>A
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3215
  bin: 5.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11655
  bin: 3.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1305
  bin: 6.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 10102
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 8924
  bin: 3.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 7031
  bin: 4.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 8.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 9.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2041
  bin: 5.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 4.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2134
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly83Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

2-234227508-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227508
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227508
    reference: chr 2
allele count: 2
allele frequency: 1.660550306371532e-5
allele num: 120442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+67G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+67G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.248G>A
  hgvsp: ENSP00000409475.1:p.Gly83Glu
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+67G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+67G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+67G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+67G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+67G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+67G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4084G>A
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2028
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10104
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11585
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7029
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5060
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12858
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2750
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly83Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

2-234227517-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227517
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227517
    reference: chr 2
allele count: 1
allele frequency: 8.332638946754437e-6
allele num: 120010
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+76A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+76A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4075A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+76A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.257A>G
  hgvsp: ENSP00000409475.1:p.His86Arg
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+76A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+76A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+76A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+76A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+76A>G
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9201
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1624
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1295
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5063
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His86Arg
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum

2-234227522-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227522
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227522
    reference: chr 2
allele count: 2
allele frequency: 1.671346436689397e-5
allele num: 119664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+81C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+81C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.262C>T
  hgvsp: ENSP00000409475.1:p.His88Tyr
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+81C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+81C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+81C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4070C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+81C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+81C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+81C>T
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4983
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1296
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 733
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6891
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3175
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8550
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9548
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9312
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2545
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 2.25e1
  variant carriers: 0
hgvs: p.His88Tyr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

2-234227523-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227523
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227523
    reference: chr 2
allele count: 84934
allele frequency: 7.134553029921207e-1
allele num: 119046
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+82A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+82A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+82A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+82A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+82A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.263A>G
  hgvsp: ENSP00000409475.1:p.His88Arg
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+82A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+82A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+82A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4069A>G
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 1.75e1
  variant carriers: 1853
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.25e1
  variant carriers: 576
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 4.75e1
  variant carriers: 3728
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 60
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.75e1
  variant carriers: 850
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.75e1
  variant carriers: 420
genotype depth: GenotypeDepth
  all individuals: 7964
  bin: 9.75e1
  variant carriers: 7964
genotype depth: GenotypeDepth
  all individuals: 9332
  bin: 2.75e1
  variant carriers: 6751
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 5.25e1
  variant carriers: 2326
genotype depth: GenotypeDepth
  all individuals: 9213
  bin: 3.25e1
  variant carriers: 8018
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 6.25e1
  variant carriers: 1057
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 4.25e1
  variant carriers: 5597
genotype depth: GenotypeDepth
  all individuals: 7617
  bin: 3.75e1
  variant carriers: 7420
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 709
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 2.25e1
  variant carriers: 4163
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.75e1
  variant carriers: 555
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 5.75e1
  variant carriers: 1587
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.25e1
  variant carriers: 466
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 428
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 7.5e0
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.75e1
  variant carriers: 231
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 4.75e1
  variant carriers: 401
hgvs: p.His88Arg
num of homozygotes: 30637
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

2-234227523-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227523
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227523
    reference: chr 2
allele count: 10
allele frequency: 8.400114241553685e-5
allele num: 119046
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+82A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+82A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+82A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+82A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4069A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+82A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.263A>T
  hgvsp: ENSP00000409475.1:p.His88Leu
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+82A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+82A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+82A>T
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4991
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5687
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9213
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 712
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2337
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7964
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7617
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9332
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
hgvs: p.His88Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-234227524-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227524
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227524
    reference: chr 2
allele count: 1
allele frequency: 8.742787200559538e-6
allele num: 114380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+83T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+83T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+83T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+83T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+83T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4068T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+83T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+83T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.264T>C
  hgvsp: ENST00000415974.1:c.264T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+83T>C
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1071
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3361
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9195
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2112
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38814
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
hgvs: p.His88His
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

2-234227530-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227530
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227530
    reference: chr 2
allele count: 1
allele frequency: 9.048463570885663e-6
allele num: 110516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+89G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+89G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.270G>T
  hgvsp: ENSP00000409475.1:p.Arg90Ser
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+89G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+89G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+89G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+89G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+89G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+89G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4062G>T
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9056
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25398
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6768
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg90Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

2-234227536-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227536
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227536
    reference: chr 2
allele count: 1
allele frequency: 9.49162838376552e-6
allele num: 105356
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4056C>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+95C>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+95C>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+95C>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+95C>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+95C>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+95C>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+95C>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+95C>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.276C>G
  hgvsp: ENSP00000409475.1:p.Asp92Glu
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7129
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7007
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp92Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-234227538-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227538
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227538
    reference: chr 2
allele count: 4
allele frequency: 3.876795440888561e-5
allele num: 103178
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+97G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+97G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+97G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+97G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.278G>A
  hgvsp: ENSP00000409475.1:p.Arg93Lys
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4054G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+97G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+97G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+97G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+97G>A
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7943
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 670
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21200
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9240
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8267
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 553
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg93Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-234227545-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227545
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227545
    reference: chr 2
allele count: 1
allele frequency: 1.05311933948355e-5
allele num: 94956
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.285A>C
  hgvsp: ENST00000415974.1:c.285A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+104A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+104A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+104A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+104A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+104A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+104A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+104A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+104A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4047A>C
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11768
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23927
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 940
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala95Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

2-234227553-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227553
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227553
    reference: chr 2
allele count: 12
allele frequency: 1.40957571770897e-4
allele num: 85132
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+112C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+112C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4039C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+112C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+112C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.293C>T
  hgvsp: ENSP00000409475.1:p.Ala98Val
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+112C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+112C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+112C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+112C>T
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14441
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7109
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2080
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12087
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2438
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala98Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

2-234227554-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227554
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227554
    reference: chr 2
allele count: 14
allele frequency: 1.649231929130148e-4
allele num: 84888
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+113G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+113G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+113G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4038G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+113G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+113G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.294G>A
  hgvsp: ENST00000415974.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+113G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+113G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+113G>A
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7229
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2922
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12048
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14590
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14951
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4626
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala98Ala
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

2-234227563-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227563
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227563
    reference: chr 2
allele count: 2
allele frequency: 2.601321471307424e-5
allele num: 76884
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+122C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+122C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+122C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.303C>T
  hgvsp: ENST00000415974.1:c.303C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+122C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4029C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+122C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+122C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+122C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+122C>T
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9173
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2634
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16167
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3543
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4002
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29722
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
hgvs: p.His101His
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

2-234227564-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227564
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227564
    reference: chr 2
allele count: 1
allele frequency: 1.310753421066429e-5
allele num: 76292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+123A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+123A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4028A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.304A>G
  hgvsp: ENSP00000409475.1:p.Met102Val
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+123A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+123A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+123A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+123A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+123A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+123A>G
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1065
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3746
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5040
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1763
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 431
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met102Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

2-234227583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227583
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227583
    reference: chr 2
allele count: 1
allele frequency: 1.862960617012556e-5
allele num: 53678
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.323C>T
  hgvsp: ENSP00000409475.1:p.Pro108Leu
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+142C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+142C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+142C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+142C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+142C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-4009C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+142C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+142C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+142C>T
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3369
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2391
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12137
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro108Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/2-234227594-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227594
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227594
    reference: chr 2
allele count: 1
allele frequency: 2.160573848414139e-5
allele num: 46284
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+153A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.334A>C
  hgvsp: ENSP00000409475.1:p.Thr112Pro
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+153A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+153A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+153A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+153A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+153A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+153A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-3998A>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+153A>C
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19927
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10884
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15324
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 687
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Thr112Pro
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

2-234227595-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227595
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227595
    reference: chr 2
allele count: 3
allele frequency: 6.63129973474801e-5
allele num: 45240
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+154C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+154C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+154C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+154C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+154C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.335C>T
  hgvsp: ENSP00000409475.1:p.Thr112Ile
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+154C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+154C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-3997C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+154C>T
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16355
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10202
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17034
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr112Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ

2-234227600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227600
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227600
    reference: chr 2
allele count: 1
allele frequency: 2.388002674562995e-5
allele num: 41876
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+159G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-3992G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+159G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+159G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.340G>A
  hgvsp: ENSP00000409475.1:p.Val114Ile
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+159G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+159G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+159G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+159G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+159G>A
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4866
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18667
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19332
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val114Ile
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

2-234227601-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227601
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227601
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 41022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+160T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+160T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+160T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+160T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-3991T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+160T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+160T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+160T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.341T>C
  hgvsp: ENSP00000409475.1:p.Val114Ala
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+160T>C
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19370
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18409
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8535
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6985
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val114Ala
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-234227610-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227610
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227610
    reference: chr 2
allele count: 1
allele frequency: 2.894188469553137e-5
allele num: 34552
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+169C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+169C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+169C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+169C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+169C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.350C>A
  hgvsp: ENSP00000409475.1:p.Ser117Ter
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+169C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+169C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+169C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-3982C>A
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5800
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24036
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15809
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1637
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser117Ter
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

2-234227612-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227612
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227612
    reference: chr 2
allele count: 1
allele frequency: 3.005530175522962e-5
allele num: 33272
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.352C>T
  hgvsp: ENSP00000409475.1:p.Arg118Cys
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+171C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+171C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+171C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+171C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+171C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+171C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+171C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-3980C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+171C>T
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15126
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24980
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg118Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-234227613-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227613
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227613
    reference: chr 2
allele count: 2
allele frequency: 6.19041723412158e-5
allele num: 32308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-3979G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+172G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+172G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+172G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+172G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+172G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.353G>A
  hgvsp: ENSP00000409475.1:p.Arg118His
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+172G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+172G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+172G>A
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25673
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4921
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14564
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6471
  bin: 6.25e1
  variant carriers: 1
hgvs: p.Arg118His
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: MQ

2-234227618-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227618
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227618
    reference: chr 2
allele count: 5
allele frequency: 1.624853763161315e-4
allele num: 30772
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+177A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+177A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.358A>G
  hgvsp: ENSP00000409475.1:p.Ile120Val
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+177A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+177A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+177A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+177A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+177A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+177A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-3974A>G
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13095
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27267
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4205
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile120Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

2-234227636-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227636
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227636
    reference: chr 2
allele count: 1
allele frequency: 3.884702043353275e-5
allele num: 25742
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+195A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+195A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.376A>G
  hgvsp: ENSP00000409475.1:p.Arg126Gly
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+195A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+195A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+195A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-3956A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+195A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+195A>G
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+195A>G
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30642
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7675
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30479
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg126Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

2-234227646-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227646
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227646
    reference: chr 2
allele count: 2
allele frequency: 8.489685032685287e-5
allele num: 23558
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.386C>T
  hgvsp: ENSP00000409475.1:p.Ser129Leu
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+205C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+205C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+205C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+205C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+205C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-3946C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+205C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+205C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+205C>T
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2728
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29767
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5206
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser129Leu
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: VQSLOD

2-234227650-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227650
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227650
    reference: chr 2
allele count: 1
allele frequency: 4.335385415763461e-5
allele num: 23066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+209C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+209C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000409475
  ensembl transcript: ENST00000415974
  gene symbol: SAG
  hgvsc: ENST00000415974.1:c.390C>T
  hgvsp: ENST00000415974.1:c.390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+209C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+209C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+209C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+209C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-3942C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+209C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+209C>T
  variant of: http://identifiers.org/hgnc/10521
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28954
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2259
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5182
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu130Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-234227666-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227666
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227666
    reference: chr 2
allele count: 1
allele frequency: 4.559963520291838e-5
allele num: 21930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+225C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+225C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-3926C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+225C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+225C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+225C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+225C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+225C>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+225C>A
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1322
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22474
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ

2-234227666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227666
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227666
    reference: chr 2
allele count: 1
allele frequency: 4.559963520291838e-5
allele num: 21930
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+225C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+225C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+225C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-3926C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+225C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+225C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+225C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+225C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+225C>T
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24495
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2898
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2534
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-234227667-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227667
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227667
    reference: chr 2
allele count: 1
allele frequency: 4.560795402718234e-5
allele num: 21926
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+226A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+226A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+226A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+226A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-3925A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+226A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+226A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+226A>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+226A>T
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24325
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 708
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2415
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22304
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

2-234227668-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227668
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227668
    reference: chr 2
allele count: 1
allele frequency: 4.567878677142335e-5
allele num: 21892
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+227G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-3924G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+227G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+227G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+227G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+227G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+227G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+227G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+227G>A
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3133
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1931
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2406
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22426
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2420
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

2-234227693-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227693
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227693
    reference: chr 2
allele count: 9940
allele frequency: 4.822901504124212e-1
allele num: 20610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+252C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+252C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+252C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+252C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+252C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+252C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+252C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-3899C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+252C>T
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 6.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 5.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 4.25e1
  variant carriers: 217
genotype depth: GenotypeDepth
  all individuals: 2140
  bin: 2.25e1
  variant carriers: 1638
genotype depth: GenotypeDepth
  all individuals: 2139
  bin: 1.75e1
  variant carriers: 1463
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 7.5e0
  variant carriers: 1610
genotype depth: GenotypeDepth
  all individuals: 12899
  bin: 2.5e0
  variant carriers: 2224
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 4.75e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 1.25e1
  variant carriers: 1145
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 3.25e1
  variant carriers: 864
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 2.75e1
  variant carriers: 1319
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 3.75e1
  variant carriers: 439
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 5.25e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 8.25e1
  variant carriers: 240
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 3.75e1
  variant carriers: 170
genotype quality: GenotypeQuality
  all individuals: 449
  bin: 6.75e1
  variant carriers: 244
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.75e1
  variant carriers: 151
genotype quality: GenotypeQuality
  all individuals: 5951
  bin: 2.5e0
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.75e1
  variant carriers: 226
num of homozygotes: 2546
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS

2-234227694-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227694
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227694
    reference: chr 2
allele count: 2
allele frequency: 9.897070467141726e-5
allele num: 20208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-3898G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+253G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+253G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+253G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+253G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+253G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+253G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+253G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+253G>A
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2786
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16992
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1924
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 700
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1814
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1842
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP

2-234227698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227698
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227698
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 19866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+257C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+257C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+257C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+257C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+257C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-3894C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+257C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+257C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+257C>T
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2824
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16966
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5790
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1221
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1149
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

2-234227699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234227699
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234227699
    reference: chr 2
allele count: 1766
allele frequency: 8.886876006441224e-2
allele num: 19872
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+258C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.181+258C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+258C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-3893C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.91+258C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.352+258C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.250+258C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*12+258C>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.181+258C>T
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 4.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 2.25e1
  variant carriers: 362
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 2074
  bin: 1.25e1
  variant carriers: 340
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2515
  bin: 1.75e1
  variant carriers: 393
genotype depth: GenotypeDepth
  all individuals: 1492
  bin: 2.75e1
  variant carriers: 222
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 16434
  bin: 2.5e0
  variant carriers: 235
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 3.25e1
  variant carriers: 144
genotype depth: GenotypeDepth
  all individuals: 410
  bin: 3.75e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 2827
  bin: 7.5e0
  variant carriers: 304
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9764
  bin: 7.5e0
  variant carriers: 143
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 4.75e1
  variant carriers: 30
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 631
  bin: 5.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 2.25e1
  variant carriers: 42
num of homozygotes: 102
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: QD

2-234229229-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234229229
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234229229
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 34672
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.251-47T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000392889
  ensembl transcript: ENST00000449594
  gene symbol: SAG
  hgvsc: ENST00000449594.2:c.-221-47T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.92-120T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.182-47T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*13-47T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+1788T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-2363T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000461532
  gene symbol: SAG
  hgvsc: ENST00000461532.1:n.477-47T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.353-47T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+1788T>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.182-47T>C
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 26460
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6051
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16091
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1872
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3521
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6633
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

2-234229235-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234229235
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234229235
    reference: chr 2
allele count: 2
allele frequency: 5.670541536716756e-5
allele num: 35270
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+1794G>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.353-41G>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-2357G>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.92-114G>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+1794G>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*13-41G>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000461532
  gene symbol: SAG
  hgvsc: ENST00000461532.1:n.477-41G>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.251-41G>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000392889
  ensembl transcript: ENST00000449594
  gene symbol: SAG
  hgvsc: ENST00000449594.2:c.-221-41G>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.182-41G>C
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.182-41G>C
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26940
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

2-234229235-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234229235
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234229235
    reference: chr 2
allele count: 5
allele frequency: 1.417635384179189e-4
allele num: 35270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000392889
  ensembl transcript: ENST00000449594
  gene symbol: SAG
  hgvsc: ENST00000449594.2:c.-221-41G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.92-114G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.182-41G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.182-41G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*13-41G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-2357G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000461532
  gene symbol: SAG
  hgvsc: ENST00000461532.1:n.477-41G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.251-41G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.353-41G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+1794G>T
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+1794G>T
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15490
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6166
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26940
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3647
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18168
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

2-234229236-C-CCGAGGGCCGGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234229236
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234229247
    reference: chr 2
allele count: 0
allele frequency: 0.0e0
allele num: 35286
alternate allele: CCGAGGGCCGGA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000461532
  gene symbol: SAG
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000392889
  ensembl transcript: ENST00000449594
  gene symbol: SAG
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27081
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3679
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15311
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18705
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff

2-234229238-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 234229238
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 234229238
    reference: chr 2
allele count: 1
allele frequency: 2.809620139357159e-5
allele num: 35592
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000412969
  gene symbol: SAG
  hgvsc: ENST00000412969.2:n.315+1797G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000404733
  ensembl transcript: ENST00000453143
  gene symbol: SAG
  hgvsc: ENST00000453143.1:c.*13-38G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000462487
  gene symbol: SAG
  hgvsc: ENST00000462487.1:n.251-38G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000386444
  ensembl transcript: ENST00000409110
  gene symbol: SAG
  hgvsc: ENST00000409110.1:c.182-38G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000392889
  ensembl transcript: ENST00000449594
  gene symbol: SAG
  hgvsc: ENST00000449594.2:c.-221-38G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000479450
  gene symbol: SAG
  hgvsc: ENST00000479450.1:n.140-2354G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000474206
  gene symbol: SAG
  hgvsc: ENST00000474206.1:n.92-111G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000471884
  gene symbol: SAG
  hgvsc: ENST00000471884.1:n.353-38G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000476500
  gene symbol: SAG
  hgvsc: ENST00000476500.1:n.416+1797G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl protein: ENSP00000408937
  ensembl transcript: ENST00000447536
  gene symbol: SAG
  hgvsc: ENST00000447536.1:c.182-38G>A
  variant of: http://identifiers.org/hgnc/10521
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130561
  ensembl transcript: ENST00000461532
  gene symbol: SAG
  hgvsc: ENST00000461532.1:n.477-38G>A
  variant of: http://identifiers.org/hgnc/10521
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14329
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27917
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 13516
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4120
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4487
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6101
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2161
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23288
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3409
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2944
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.461e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

VQSLOD
type: SiteQuality
SIO_000300: 3.22e-1

DP
type: SiteQuality
SIO_000300: 2.871343e6

MQRankSum
type: SiteQuality
SIO_000300: 8.88e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

ClippingRankSum
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SIO_000300: -6.7e-1

QD
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GenotypeQuality
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variant carriers: 0

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

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

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

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

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

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

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

VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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SIO_000300: -7.212e0

ReadPosRankSum
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DP
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QD
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ClippingRankSum
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SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 5.886e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8622
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 8.097e0

InbreedingCoeff
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SIO_000300: 2.4e-3

DP
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MQRankSum
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MQ
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SIO_000300: 5.981e1

ClippingRankSum
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QD
type: SiteQuality
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ReadPosRankSum
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SIO_000300: 3.45e-1

BaseQRankSum
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SIO_000300: 2.91e0

VQSLOD
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SIO_000300: -1.575e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 11576
num of homozygotes: 0

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

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

African
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allele count: 1
allele frequency: 1.02124183006536e-4
allele num: 9792
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.88e-1

DP
type: SiteQuality
SIO_000300: 2.874449e6

VQSLOD
type: SiteQuality
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MQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.964e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.24e-1

FS
type: SiteQuality
SIO_000300: 9.379999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 1.352e1

BaseQRankSum
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SIO_000300: 2.26e0

GenotypeQuality
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variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 898
num of homozygotes: 0

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

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

East Asian
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allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.67e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 7

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

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

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

East Asian
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allele frequency: 6.955715279387897e-4
allele num: 8626
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

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

South Asian
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allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

African
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allele num: 9794
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East Asian
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allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
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allele count: 25
allele frequency: 3.746440881162895e-4
allele num: 66730
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Other
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European (Finnish)
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allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

Latino
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InbreedingCoeff
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MQ
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FS
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VQSLOD
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MQRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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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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variant carriers: 0

South Asian
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num of homozygotes: 0

East Asian
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Other
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European (Non-Finnish)
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allele count: 2
allele frequency: 2.997152704930316e-5
allele num: 66730
num of homozygotes: 0

Latino
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African
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allele count: 1
allele frequency: 1.021033285685113e-4
allele num: 9794
num of homozygotes: 0

European (Finnish)
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MQRankSum
type: SiteQuality
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DP
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FS
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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QD
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InbreedingCoeff
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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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variant carriers: 12

GenotypeQuality
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variant carriers: 0

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

East Asian
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 13
allele frequency: 1.94803248718794e-4
allele num: 66734
num of homozygotes: 1

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.51e-1

FS
type: SiteQuality
SIO_000300: 3.231e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.26e-2

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

QD
type: SiteQuality
SIO_000300: 1.648e1

DP
type: SiteQuality
SIO_000300: 2.874233e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

GenotypeQuality
all individuals: 3420
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2171
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6162
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

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

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.873078e6

MQRankSum
type: SiteQuality
SIO_000300: 8.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.9e-2

FS
type: SiteQuality
SIO_000300: 5.197e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.463e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.44e-1

QD
type: SiteQuality
SIO_000300: 1.381e1

GenotypeQuality
all individuals: 3421
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6160
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
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: 6614
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.861e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.61e-1

DP
type: SiteQuality
SIO_000300: 2.873133e6

QD
type: SiteQuality
SIO_000300: 1.251e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQ
type: SiteQuality
SIO_000300: 5.901e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.76e-1

GenotypeQuality
all individuals: 4157
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
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: 6614
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.768e0

QD
type: SiteQuality
SIO_000300: 1.131e1

FS
type: SiteQuality
SIO_000300: 1.772e0

MQRankSum
type: SiteQuality
SIO_000300: 2.71e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e-1

DP
type: SiteQuality
SIO_000300: 2.873186e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.573e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6161
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4158
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.936e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-1

QD
type: SiteQuality
SIO_000300: 8.539999999999999e0

DP
type: SiteQuality
SIO_000300: 2.873141e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: 5.6e-3

FS
type: SiteQuality
SIO_000300: 2.89e0

MQRankSum
type: SiteQuality
SIO_000300: 6.57e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.19e-1

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495324862143371e-5
allele num: 66736
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.873266e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e-1

QD
type: SiteQuality
SIO_000300: 1.32e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 3.28e0

FS
type: SiteQuality
SIO_000300: 3.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.06e-1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 8

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 5.100999795960009e-4
allele num: 9802
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.873365e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

FS
type: SiteQuality
SIO_000300: 1.169e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.05e-1

QD
type: SiteQuality
SIO_000300: 1.435e1

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

MQ
type: SiteQuality
SIO_000300: 5.96e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.15e0

MQ
type: SiteQuality
SIO_000300: 5.904e1

MQRankSum
type: SiteQuality
SIO_000300: 2.04e0

FS
type: SiteQuality
SIO_000300: 1.576e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

QD
type: SiteQuality
SIO_000300: 1.264e1

VQSLOD
type: SiteQuality
SIO_000300: -6.632e-1

DP
type: SiteQuality
SIO_000300: 2.872848e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 14
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 90
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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
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23251
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2970
bin: 7.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 4
allele frequency: 4.080799836768007e-4
allele num: 9802
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

VQSLOD
type: SiteQuality
SIO_000300: 2.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.53e-1

DP
type: SiteQuality
SIO_000300: 2.872929e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.401e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.45e-1

GenotypeQuality
all individuals: 2175
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4523
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2969
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6160
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e0

FS
type: SiteQuality
SIO_000300: 8.45e-1

QD
type: SiteQuality
SIO_000300: 1.43e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.111e0

MQRankSum
type: SiteQuality
SIO_000300: 3.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.289e0

MQ
type: SiteQuality
SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 2.872643e6

GenotypeQuality
all individuals: 3422
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6164
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.45e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.59e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.674e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.699999999999999e-3

DP
type: SiteQuality
SIO_000300: 2.872612e6

MQ
type: SiteQuality
SIO_000300: 5.837e1

QD
type: SiteQuality
SIO_000300: 1.114e1

GenotypeQuality
all individuals: 13
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2175
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13699
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4164
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.020199959192002e-4
allele num: 9802
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 898
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: 6614
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

FS
type: SiteQuality
SIO_000300: 4.569e0

MQRankSum
type: SiteQuality
SIO_000300: -3.25e-1

QD
type: SiteQuality
SIO_000300: 1.449e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.968e0

VQSLOD
type: SiteQuality
SIO_000300: 9.399999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.872605e6

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

GenotypeQuality
all individuals: 23313
bin: 9.75e1
variant carriers: 1123

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4155
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 86
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variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13665
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6152
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4519
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3418
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1105
allele frequency: 1.127320954907162e-1
allele num: 9802
num of homozygotes: 63

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

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

European (Non-Finnish)
type: Population
allele count: 41
allele frequency: 6.143794767285042e-4
allele num: 66734
num of homozygotes: 1

Latino
type: Population
allele count: 37
allele frequency: 3.197372969236087e-3
allele num: 11572
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.2271714922049e-3
allele num: 898
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.07e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

FS
type: SiteQuality
SIO_000300: 6.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.696e0

QD
type: SiteQuality
SIO_000300: 1.425e1

DP
type: SiteQuality
SIO_000300: 2.903245e6

GenotypeQuality
all individuals: 6
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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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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GenotypeQuality
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GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13841
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variant carriers: 0

GenotypeQuality
all individuals: 3481
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 9.83e-1

DP
type: SiteQuality
SIO_000300: 2.838109e6

VQSLOD
type: SiteQuality
SIO_000300: 3.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.53e-1

QD
type: SiteQuality
SIO_000300: 1.386e1

FS
type: SiteQuality
SIO_000300: 5.546e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.029e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
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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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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
all individuals: 4597
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variant carriers: 0

GenotypeQuality
all individuals: 6251
bin: 6.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.388e0

DP
type: SiteQuality
SIO_000300: 2.837953e6

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.194e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.07e-1

QD
type: SiteQuality
SIO_000300: 1.039e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 93
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 22732
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variant carriers: 9

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 9
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GenotypeQuality
all individuals: 27
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GenotypeQuality
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GenotypeQuality
all individuals: 7
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GenotypeQuality
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GenotypeQuality
all individuals: 6253
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variant carriers: 0

GenotypeQuality
all individuals: 4224
bin: 8.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495594317568783e-5
allele num: 66732
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9804
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.186721991701245e-4
allele num: 11568
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 6.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.39e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.73e0

DP
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.99e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.28e1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 99
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GenotypeQuality
all individuals: 4220
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GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 22720
bin: 9.75e1
variant carriers: 40

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 32
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GenotypeQuality
all individuals: 5
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variant carriers: 0

GenotypeQuality
all individuals: 3000
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 25
allele frequency: 2.899559266991417e-3
allele num: 8622
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 5.994305409860632e-5
allele num: 66730
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.593360995850622e-4
allele num: 11568
num of homozygotes: 0

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

South Asian
type: Population
allele count: 6
allele frequency: 3.633720930232558e-4
allele num: 16512
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.019575856443719e-4
allele num: 9808
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.838271e6

VQSLOD
type: SiteQuality
SIO_000300: 5.04e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.06e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-3

QD
type: SiteQuality
SIO_000300: 1.397e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.295e0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22709
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 3000
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2205
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9810
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.836037e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.336e0

QD
type: SiteQuality
SIO_000300: 1.049e1

FS
type: SiteQuality
SIO_000300: 8.356e0

VQSLOD
type: SiteQuality
SIO_000300: -4.347e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.47e0

MQRankSum
type: SiteQuality
SIO_000300: -7.9e-2

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
all individuals: 3431
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 77
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 3.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.6e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.1e-2

DP
type: SiteQuality
SIO_000300: 2.816941e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.207e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.79e-1

FS
type: SiteQuality
SIO_000300: 5.156e0

QD
type: SiteQuality
SIO_000300: 7.2e0

VQSLOD
type: SiteQuality
SIO_000300: -3.565e-1

GenotypeQuality
all individuals: 2805
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4076
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5895
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variant carriers: 0

GenotypeQuality
all individuals: 92
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variant carriers: 0

GenotypeQuality
all individuals: 22656
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variant carriers: 1

GenotypeQuality
all individuals: 3413
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 118
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variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2158
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 1.019575856443719e-4
allele num: 9808
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.656e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

QD
type: SiteQuality
SIO_000300: 1.345e1

DP
type: SiteQuality
SIO_000300: 2.809615e6

GenotypeQuality
all individuals: 272
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13464
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5885
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variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
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variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 2796
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variant carriers: 0

GenotypeQuality
all individuals: 22654
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 94
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4383
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2153
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3414
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500645277469312e-5
allele num: 66638
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9808
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.458e0

DP
type: SiteQuality
SIO_000300: 2.807013e6

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.12e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

QD
type: SiteQuality
SIO_000300: 1.54e1

GenotypeQuality
all individuals: 189
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4047
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2760
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variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 138
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GenotypeQuality
all individuals: 4335
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variant carriers: 0

GenotypeQuality
all individuals: 13
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variant carriers: 0

GenotypeQuality
all individuals: 5798
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variant carriers: 0

GenotypeQuality
all individuals: 418
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variant carriers: 0

GenotypeQuality
all individuals: 540
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variant carriers: 0

GenotypeQuality
all individuals: 127
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GenotypeQuality
all individuals: 22722
bin: 9.75e1
variant carriers: 288

GenotypeQuality
all individuals: 135
bin: 5.75e1
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GenotypeQuality
all individuals: 12933
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variant carriers: 0

GenotypeQuality
all individuals: 3386
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variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 9
allele frequency: 7.81657113079729e-4
allele num: 11514
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 6.669900557846228e-4
allele num: 16492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 236
allele frequency: 3.544607990387504e-3
allele num: 66580
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.121533442088091e-3
allele num: 9808
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.34075723830735e-3
allele num: 898
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 18
allele frequency: 2.723970944309927e-3
allele num: 6608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.5e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.84e-1

DP
type: SiteQuality
SIO_000300: 2.799222e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.61e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.501e1

GenotypeQuality
all individuals: 22552
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5802
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variant carriers: 0

GenotypeQuality
all individuals: 208
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GenotypeQuality
all individuals: 243
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GenotypeQuality
all individuals: 121
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variant carriers: 0

GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 462
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 230
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variant carriers: 0

GenotypeQuality
all individuals: 575
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GenotypeQuality
all individuals: 155
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GenotypeQuality
all individuals: 3394
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4355
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 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: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9806
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.336994624912363e-4
allele num: 8558
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.693e0

DP
type: SiteQuality
SIO_000300: 2.793147e6

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: -1.05e-1

FS
type: SiteQuality
SIO_000300: 2.435e0

QD
type: SiteQuality
SIO_000300: 1.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -8.083e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

GenotypeQuality
all individuals: 67
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 821
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4194
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9794
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: 1
allele frequency: 6.070908207867897e-5
allele num: 16472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66340
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e0

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.85e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

FS
type: SiteQuality
SIO_000300: 6.095e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.18e-1

QD
type: SiteQuality
SIO_000300: 1.489e1

DP
type: SiteQuality
SIO_000300: 2.758877e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

GenotypeQuality
all individuals: 730
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 200
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GenotypeQuality
all individuals: 1081
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GenotypeQuality
all individuals: 51
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GenotypeQuality
all individuals: 361
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variant carriers: 0

GenotypeQuality
all individuals: 33
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GenotypeQuality
all individuals: 1677
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GenotypeQuality
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GenotypeQuality
all individuals: 2110
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GenotypeQuality
all individuals: 4177
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GenotypeQuality
all individuals: 737
bin: 4.25e1
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GenotypeQuality
all individuals: 3356
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variant carriers: 0

GenotypeQuality
all individuals: 22506
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variant carriers: 2

GenotypeQuality
all individuals: 3943
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.021450459652707e-4
allele num: 9790
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511898642315019e-5
allele num: 66142
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -1.137e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.74873e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.732e1

GenotypeQuality
all individuals: 1419
bin: 7.75e1
variant carriers: 1320

GenotypeQuality
all individuals: 733
bin: 2.25e1
variant carriers: 82

GenotypeQuality
all individuals: 44708
bin: 9.75e1
variant carriers: 44666

GenotypeQuality
all individuals: 118
bin: 1.25e1
variant carriers: 72

GenotypeQuality
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bin: 3.25e1
variant carriers: 178

GenotypeQuality
all individuals: 139
bin: 1.75e1
variant carriers: 92

GenotypeQuality
all individuals: 160
bin: 2.5e0
variant carriers: 29

GenotypeQuality
all individuals: 4120
bin: 6.25e1
variant carriers: 765

GenotypeQuality
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bin: 5.25e1
variant carriers: 511

GenotypeQuality
all individuals: 1531
bin: 8.25e1
variant carriers: 1488

GenotypeQuality
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bin: 2.75e1
variant carriers: 92

GenotypeQuality
all individuals: 290
bin: 4.25e1
variant carriers: 206

GenotypeQuality
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bin: 9.25e1
variant carriers: 1617

GenotypeQuality
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bin: 7.25e1
variant carriers: 649

GenotypeQuality
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bin: 8.75e1
variant carriers: 813

GenotypeQuality
all individuals: 514
bin: 5.75e1
variant carriers: 401

GenotypeQuality
all individuals: 1600
bin: 6.75e1
variant carriers: 1004

Other
type: Population
allele count: 631
allele frequency: 7.089887640449438e-1
allele num: 890
num of homozygotes: 229

European (Finnish)
type: Population
allele count: 4870
allele frequency: 7.403466099118273e-1
allele num: 6578
num of homozygotes: 1810

Latino
type: Population
allele count: 5932
allele frequency: 5.34221902017291e-1
allele num: 11104
num of homozygotes: 1570

East Asian
type: Population
allele count: 4379
allele frequency: 5.255640902544407e-1
allele num: 8332
num of homozygotes: 1093

European (Non-Finnish)
type: Population
allele count: 47937
allele frequency: 7.273541103996601e-1
allele num: 65906
num of homozygotes: 17366

South Asian
type: Population
allele count: 12904
allele frequency: 7.844376899696048e-1
allele num: 16450
num of homozygotes: 5074

African
type: Population
allele count: 8281
allele frequency: 8.4620886981402e-1
allele num: 9786
num of homozygotes: 3495

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

DP
type: SiteQuality
SIO_000300: 3.130342e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

QD
type: SiteQuality
SIO_000300: 2.788e1

VQSLOD
type: SiteQuality
SIO_000300: 5.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

GenotypeQuality
all individuals: 139
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1600
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1624
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 733
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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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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
all individuals: 760
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44708
bin: 9.75e1
variant carriers: 10

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11104
num of homozygotes: 0

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

African
type: Population
allele count: 10
allele frequency: 1.021867974657674e-3
allele num: 9786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8332
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65906
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.31e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

MQ
type: SiteQuality
SIO_000300: 5.985e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

DP
type: SiteQuality
SIO_000300: 3.130342e6

QD
type: SiteQuality
SIO_000300: 2.788e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.15e-1

GenotypeQuality
all individuals: 69
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
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GenotypeQuality
all individuals: 218
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variant carriers: 0

GenotypeQuality
all individuals: 286
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GenotypeQuality
all individuals: 1579
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 752
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 404
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variant carriers: 0

GenotypeQuality
all individuals: 7597
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variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 2.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.0530749789385e-4
allele num: 9496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15900
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6420
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.839e0

FS
type: SiteQuality
SIO_000300: 4.987e0

QD
type: SiteQuality
SIO_000300: 1.399e1

MQRankSum
type: SiteQuality
SIO_000300: 3.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 9.65e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 7.35e-1

DP
type: SiteQuality
SIO_000300: 1.573506e6

GenotypeQuality
all individuals: 418
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35775
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variant carriers: 0

GenotypeQuality
all individuals: 233
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GenotypeQuality
all individuals: 726
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GenotypeQuality
all individuals: 9295
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variant carriers: 0

GenotypeQuality
all individuals: 245
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variant carriers: 0

GenotypeQuality
all individuals: 791
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GenotypeQuality
all individuals: 59
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GenotypeQuality
all individuals: 1365
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variant carriers: 0

GenotypeQuality
all individuals: 635
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GenotypeQuality
all individuals: 88
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GenotypeQuality
all individuals: 1427
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variant carriers: 0

GenotypeQuality
all individuals: 452
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variant carriers: 0

GenotypeQuality
all individuals: 847
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variant carriers: 0

GenotypeQuality
all individuals: 519
bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 848
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6266
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.637840670859539e-5
allele num: 61056
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15620
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.397e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.854e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.92e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.243e0

MQRankSum
type: SiteQuality
SIO_000300: -7.64e-1

DP
type: SiteQuality
SIO_000300: 1.497973e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 6.71e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1204
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
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variant carriers: 0

GenotypeQuality
all individuals: 136
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GenotypeQuality
all individuals: 315
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 1104
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variant carriers: 0

GenotypeQuality
all individuals: 5949
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 344
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 692
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15174
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8922
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.718921892189219e-5
allele num: 58176
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9000
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.366e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.363e0

VQSLOD
type: SiteQuality
SIO_000300: -2.814e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.359e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.062e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.85e-1

DP
type: SiteQuality
SIO_000300: 1.406563e6

QD
type: SiteQuality
SIO_000300: 1.345e1

GenotypeQuality
all individuals: 239
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5355
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variant carriers: 0

GenotypeQuality
all individuals: 783
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GenotypeQuality
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GenotypeQuality
all individuals: 764
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GenotypeQuality
all individuals: 29667
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GenotypeQuality
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GenotypeQuality
all individuals: 129
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 716
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variant carriers: 4

GenotypeQuality
all individuals: 15038
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GenotypeQuality
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GenotypeQuality
all individuals: 176
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GenotypeQuality
all individuals: 209
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GenotypeQuality
all individuals: 1156
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GenotypeQuality
all individuals: 683
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8756
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 7.028394714647174e-5
allele num: 56912
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7084
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5886
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8692
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 816
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15032
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.228e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.9e-1

DP
type: SiteQuality
SIO_000300: 1.363711e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.238e1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e-1

MQ
type: SiteQuality
SIO_000300: 5.932e1

GenotypeQuality
all individuals: 162
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 704
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GenotypeQuality
all individuals: 286
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3.75e1
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
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variant carriers: 0

GenotypeQuality
all individuals: 1000
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5524
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6466
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.918796530815872e-5
allele num: 52116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14340
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.210682e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.19e-1

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.096e0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

MQRankSum
type: SiteQuality
SIO_000300: 6.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e-1

GenotypeQuality
all individuals: 359
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 818
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GenotypeQuality
all individuals: 558
bin: 5.25e1
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GenotypeQuality
all individuals: 630
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GenotypeQuality
all individuals: 1829
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GenotypeQuality
all individuals: 17418
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GenotypeQuality
all individuals: 3138
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GenotypeQuality
all individuals: 1956
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GenotypeQuality
all individuals: 401
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GenotypeQuality
all individuals: 647
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GenotypeQuality
all individuals: 194
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GenotypeQuality
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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: 704
bin: 9.75e1
variant carriers: 12

Latino
type: Population
allele count: 8
allele frequency: 1.258257313620635e-3
allele num: 6358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5052
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7462
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5682
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.159827213822894e-5
allele num: 46300
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 2.212063117534287e-4
allele num: 13562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.343e1

MQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 2.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
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SIO_000300: 2.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

DP
type: SiteQuality
SIO_000300: 1.06882e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5028
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7430
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.385524372230428e-5
allele num: 13540
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 2.051767676767677e-3
allele num: 6336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5676
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 718
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.06e0

DP
type: SiteQuality
SIO_000300: 1.061438e6

QD
type: SiteQuality
SIO_000300: 1.107e1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6818
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4722
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5038
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.831384674847811e-5
allele num: 41396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12874
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VQSLOD
type: SiteQuality
SIO_000300: -8.534e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.63e0

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

DP
type: SiteQuality
SIO_000300: 9.56018e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.06e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.236e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2586
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GenotypeQuality
all individuals: 13519
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.438905419247842e-5
allele num: 41002
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12838
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4994
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 640
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.903e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.95e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

DP
type: SiteQuality
SIO_000300: 9.46058e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.384e-1

QD
type: SiteQuality
SIO_000300: 1.653e1

GenotypeQuality
all individuals: 2370
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variant carriers: 0

GenotypeQuality
all individuals: 810
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 432
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variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5076
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3586
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3114
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.577305573442083e-5
allele num: 27954
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2556
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQRankSum
type: SiteQuality
SIO_000300: 1.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.62e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.974e1

DP
type: SiteQuality
SIO_000300: 7.54488e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.617e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.58e-2

GenotypeQuality
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variant carriers: 0

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4432
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 5.5005500550055e-4
allele num: 1818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23740
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.33e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.46e0

QD
type: SiteQuality
SIO_000300: 6.7e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-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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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 23108
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3086
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1704
num of homozygotes: 0

African
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allele frequency: 0.0e0
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East Asian
type: Population
allele count: 3
allele frequency: 1.215559157212318e-3
allele num: 2468
num of homozygotes: 0

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

Other
type: Population
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allele frequency: 0.0e0
allele num: 438
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.38e-2

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -8.53e-1

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.946e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
allele frequency: 0.0e0
allele num: 4092
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
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Other
type: Population
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East Asian
type: Population
allele count: 1
allele frequency: 4.533091568449683e-4
allele num: 2206
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 21090
num of homozygotes: 0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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FS
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MQRankSum
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QD
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ReadPosRankSum
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1396
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
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DP
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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FS
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ReadPosRankSum
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MQRankSum
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QD
type: SiteQuality
SIO_000300: 1.28e1

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

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

European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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African
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 1.04602510460251e-3
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InbreedingCoeff
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FS
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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MQ
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MQRankSum
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VQSLOD
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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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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 6.268806419257773e-5
allele num: 15952
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
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FS
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VQSLOD
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MQRankSum
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QD
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MQ
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ReadPosRankSum
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -4.99e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 7.42e-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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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 1394
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3266
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 6.518055012384304e-5
allele num: 15342
num of homozygotes: 0

South Asian
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allele frequency: 1.124353496739375e-4
allele num: 8894
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 332
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QD
type: SiteQuality
SIO_000300: 1.382e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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FS
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQRankSum
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.907e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2102
num of homozygotes: 0

Latino
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South Asian
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East Asian
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.462603878116343e-4
allele num: 14440
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Other
type: Population
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

FS
type: SiteQuality
SIO_000300: 1.089e0

BaseQRankSum
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ReadPosRankSum
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DP
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MQRankSum
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VQSLOD
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QD
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MQ
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -5.42e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8.764241893076249e-5
allele num: 11410
num of homozygotes: 0

African
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East Asian
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South Asian
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European (Finnish)
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Latino
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Other
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DP
type: SiteQuality
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FS
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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MQ
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QD
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MQRankSum
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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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Other
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Latino
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European (Finnish)
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African
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East Asian
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South Asian
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European (Non-Finnish)
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MQRankSum
type: SiteQuality
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ClippingRankSum
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MQ
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DP
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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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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East Asian
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European (Non-Finnish)
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Other
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European (Finnish)
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African
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Latino
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South Asian
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FS
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MQRankSum
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QD
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MQ
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DP
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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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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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 563
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7960
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2022
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9116
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.074688796680498e-3
allele num: 482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1416
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.35e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.29e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.052e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.47e1

DP
type: SiteQuality
SIO_000300: 3.78508e5

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 458
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 481
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22474
bin: 7.5e0
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GenotypeQuality
all individuals: 416
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1322
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4513
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 5.25e1
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GenotypeQuality
all individuals: 563
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 70
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7960
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.945598417408506e-4
allele num: 2022
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1416
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.52e-1

DP
type: SiteQuality
SIO_000300: 3.78508e5

QD
type: SiteQuality
SIO_000300: 1.47e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.35e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.29e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

VQSLOD
type: SiteQuality
SIO_000300: -2.052e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-1

GenotypeQuality
all individuals: 648
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 488
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2028
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 482
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 696
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.256597134958532e-4
allele num: 7958
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.221e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.909999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.393e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.624e0

VQSLOD
type: SiteQuality
SIO_000300: -2.124e0

DP
type: SiteQuality
SIO_000300: 3.7664e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.7e-1

GenotypeQuality
all individuals: 156
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 652
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 192
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 556
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 1.75e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.256913021618904e-4
allele num: 7956
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1418
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.203e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

QD
type: SiteQuality
SIO_000300: 1.25e1

MQ
type: SiteQuality
SIO_000300: 5.9e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.89e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.331e0

DP
type: SiteQuality
SIO_000300: 3.76449e5

GenotypeQuality
all individuals: 717
bin: 1.75e1
variant carriers: 501

GenotypeQuality
all individuals: 917
bin: 1.25e1
variant carriers: 628

GenotypeQuality
all individuals: 388
bin: 7.75e1
variant carriers: 289

GenotypeQuality
all individuals: 258
bin: 7.25e1
variant carriers: 172

GenotypeQuality
all individuals: 850
bin: 6.25e1
variant carriers: 306

GenotypeQuality
all individuals: 6829
bin: 7.5e0
variant carriers: 1378

GenotypeQuality
all individuals: 410
bin: 5.25e1
variant carriers: 319

GenotypeQuality
all individuals: 267
bin: 9.25e1
variant carriers: 226

GenotypeQuality
all individuals: 1097
bin: 2.25e1
variant carriers: 416

GenotypeQuality
all individuals: 513
bin: 3.25e1
variant carriers: 166

GenotypeQuality
all individuals: 5432
bin: 9.75e1
variant carriers: 5257

GenotypeQuality
all individuals: 420
bin: 4.75e1
variant carriers: 245

GenotypeQuality
all individuals: 195
bin: 8.75e1
variant carriers: 159

GenotypeQuality
all individuals: 289
bin: 4.25e1
variant carriers: 138

South Asian
type: Population
allele count: 4249
allele frequency: 5.444643772424398e-1
allele num: 7804
num of homozygotes: 1151

African
type: Population
allele count: 193
allele frequency: 1.11431870669746e-1
allele num: 1732
num of homozygotes: 21

Latino
type: Population
allele count: 150
allele frequency: 3.218884120171674e-1
allele num: 466
num of homozygotes: 32

European (Finnish)
type: Population
allele count: 603
allele frequency: 4.356936416184971e-1
allele num: 1384
num of homozygotes: 126

European (Non-Finnish)
type: Population
allele count: 4391
allele frequency: 5.267514395393474e-1
allele num: 8336
num of homozygotes: 1147

Other
type: Population
allele count: 107
allele frequency: 4.776785714285715e-1
allele num: 224
num of homozygotes: 20

East Asian
type: Population
allele count: 247
allele frequency: 3.719879518072289e-1
allele num: 664
num of homozygotes: 49

QD
type: SiteQuality
SIO_000300: 2.205e1

DP
type: SiteQuality
SIO_000300: 3.18624e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.5e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.295e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 619
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1213
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1194
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1098
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12704
bin: 7.5e0
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GenotypeQuality
all individuals: 4434
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GenotypeQuality
all individuals: 313
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GenotypeQuality
all individuals: 222
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 354
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GenotypeQuality
all individuals: 99
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GenotypeQuality
all individuals: 860
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8034
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.787037037037037e-4
allele num: 1728
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 2.202643171806168e-3
allele num: 454
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7722
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

QD
type: SiteQuality
SIO_000300: 1.489e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.31e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.06e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.97678e5

GenotypeQuality
all individuals: 11325
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 142
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1214
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1239
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 564
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variant carriers: 0

GenotypeQuality
all individuals: 658
bin: 4.25e1
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GenotypeQuality
all individuals: 699
bin: 2.75e1
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GenotypeQuality
all individuals: 307
bin: 7.75e1
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GenotypeQuality
all individuals: 246
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 994
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1588
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1044
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7888
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1378
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1686
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7596
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 456
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.662e1

MQRankSum
type: SiteQuality
SIO_000300: -1.221e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.37e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.22e-1

FS
type: SiteQuality
SIO_000300: 6.99e0

VQSLOD
type: SiteQuality
SIO_000300: -3.219e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.56e-1

QD
type: SiteQuality
SIO_000300: 1.896e1

DP
type: SiteQuality
SIO_000300: 2.9507e5

GenotypeQuality
all individuals: 637
bin: 2.75e1
variant carriers: 31

GenotypeQuality
all individuals: 1078
bin: 3.75e1
variant carriers: 5

GenotypeQuality
all individuals: 217
bin: 7.25e1
variant carriers: 11

GenotypeQuality
all individuals: 571
bin: 4.25e1
variant carriers: 13

GenotypeQuality
all individuals: 971
bin: 1.75e1
variant carriers: 36

GenotypeQuality
all individuals: 144
bin: 9.25e1
variant carriers: 34

GenotypeQuality
all individuals: 6824
bin: 2.5e0
variant carriers: 8

GenotypeQuality
all individuals: 2094
bin: 9.75e1
variant carriers: 1595

GenotypeQuality
all individuals: 1025
bin: 1.25e1
variant carriers: 47

GenotypeQuality
all individuals: 255
bin: 7.75e1
variant carriers: 17

GenotypeQuality
all individuals: 937
bin: 6.25e1
variant carriers: 25

GenotypeQuality
all individuals: 119
bin: 8.75e1
variant carriers: 41

GenotypeQuality
all individuals: 1045
bin: 3.25e1
variant carriers: 20

GenotypeQuality
all individuals: 488
bin: 6.75e1
variant carriers: 32

East Asian
type: Population
allele count: 17
allele frequency: 2.623456790123457e-2
allele num: 648
num of homozygotes: 1

African
type: Population
allele count: 388
allele frequency: 2.304038004750594e-1
allele num: 1684
num of homozygotes: 45

European (Non-Finnish)
type: Population
allele count: 414
allele frequency: 5.276574050471578e-2
allele num: 7846
num of homozygotes: 11

Other
type: Population
allele count: 17
allele frequency: 7.657657657657657e-2
allele num: 222
num of homozygotes: 0

Latino
type: Population
allele count: 27
allele frequency: 5.921052631578947e-2
allele num: 456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 123
allele frequency: 8.951965065502183e-2
allele num: 1374
num of homozygotes: 3

South Asian
type: Population
allele count: 780
allele frequency: 1.020675215912065e-1
allele num: 7642
num of homozygotes: 42

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.95261e5

QD
type: SiteQuality
SIO_000300: 1.541e1

GenotypeQuality
all individuals: 226
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1465
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11297
bin: 7.5e0
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GenotypeQuality
all individuals: 205
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GenotypeQuality
all individuals: 734
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GenotypeQuality
all individuals: 4321
bin: 6.25e1
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GenotypeQuality
all individuals: 9235
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2528
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
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variant carriers: 0

GenotypeQuality
all individuals: 412
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variant carriers: 0

GenotypeQuality
all individuals: 13933
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1732
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1224
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17524
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1782
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2038
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1110
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.15426e5

VQSLOD
type: SiteQuality
SIO_000300: 2.22e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.88e-1

QD
type: SiteQuality
SIO_000300: 9.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.53e-2

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11629
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 943
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2527
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18168
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1533
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2617
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1223
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 610
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5994
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5928
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5252
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1836
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2046
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.34246896228625e-4
allele num: 8538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1146
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3480
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.149999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.16e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.25e-1

DP
type: SiteQuality
SIO_000300: 6.29044e5

QD
type: SiteQuality
SIO_000300: 1.222e1

GenotypeQuality
all individuals: 943
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1223
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 60
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2617
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2527
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5928
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 5252
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1146
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11629
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1533
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5994
bin: 1.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1146
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17908
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2046
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1836
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 5.856172405715624e-4
allele num: 8538
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.16e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

FS
type: SiteQuality
SIO_000300: 3.03e0

VQSLOD
type: SiteQuality
SIO_000300: 8.149999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.222e1

DP
type: SiteQuality
SIO_000300: 6.29044e5

GenotypeQuality
all individuals: 1219
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 495
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1147
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1501
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5754
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 597
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11619
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2610
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5638
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2534
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5265
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17934
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1844
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1154
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3468
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.329e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.38e0

QD
type: SiteQuality
SIO_000300: 4.18e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: 2.86e0

DP
type: SiteQuality
SIO_000300: 6.31725e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.29e-2

GenotypeQuality
all individuals: 11391
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 5.25e1
variant carriers: 0