20-57089776-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57089776
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57089776
    reference: chr 20
allele count: 4
allele frequency: 6.545787785559992e-5
allele num: 61108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000413261
  ensembl transcript: ENST00000439429
  gene symbol: APCDD1L
  hgvsc: ENST00000439429.1:c.-151C>T
  variant of: http://identifiers.org/hgnc/26892
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000360191
  ensembl transcript: ENST00000371149
  gene symbol: APCDD1L
  hgvsc: ENST00000371149.3:c.-13C>T
  variant of: http://identifiers.org/hgnc/26892
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000396856
  ensembl transcript: ENST00000425773
  gene symbol: APCDD1L
  hgvsc: ENST00000425773.1:c.-151C>T
  variant of: http://identifiers.org/hgnc/26892
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 200
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: DP

20-57089780-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57089780
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57089780
    reference: chr 20
allele count: 1
allele frequency: 1.756296322315501e-5
allele num: 56938
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000413261
  ensembl transcript: ENST00000439429
  gene symbol: APCDD1L
  hgvsc: ENST00000439429.1:c.-155C>G
  variant of: http://identifiers.org/hgnc/26892
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000396856
  ensembl transcript: ENST00000425773
  gene symbol: APCDD1L
  hgvsc: ENST00000425773.1:c.-155C>G
  variant of: http://identifiers.org/hgnc/26892
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000360191
  ensembl transcript: ENST00000371149
  gene symbol: APCDD1L
  hgvsc: ENST00000371149.3:c.-17C>G
  variant of: http://identifiers.org/hgnc/26892
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17613
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2798
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP

20-57089781-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57089781
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57089781
    reference: chr 20
allele count: 4
allele frequency: 7.084912678451239e-5
allele num: 56458
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000396856
  ensembl transcript: ENST00000425773
  gene symbol: APCDD1L
  hgvsc: ENST00000425773.1:c.-156C>T
  variant of: http://identifiers.org/hgnc/26892
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000360191
  ensembl transcript: ENST00000371149
  gene symbol: APCDD1L
  hgvsc: ENST00000371149.3:c.-18C>T
  variant of: http://identifiers.org/hgnc/26892
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000413261
  ensembl transcript: ENST00000439429
  gene symbol: APCDD1L
  hgvsc: ENST00000439429.1:c.-156C>T
  variant of: http://identifiers.org/hgnc/26892
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17664
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4748
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 640
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  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD

20-57089784-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57089784
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57089784
    reference: chr 20
allele count: 2
allele frequency: 3.72079178449174e-5
allele num: 53752
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000360191
  ensembl transcript: ENST00000371149
  gene symbol: APCDD1L
  hgvsc: ENST00000371149.3:c.-21G>C
  variant of: http://identifiers.org/hgnc/26892
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000396856
  ensembl transcript: ENST00000425773
  gene symbol: APCDD1L
  hgvsc: ENST00000425773.1:c.-159G>C
  variant of: http://identifiers.org/hgnc/26892
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000413261
  ensembl transcript: ENST00000439429
  gene symbol: APCDD1L
  hgvsc: ENST00000439429.1:c.-159G>C
  variant of: http://identifiers.org/hgnc/26892
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2443
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
population: African
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

20-57089797-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57089797
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57089797
    reference: chr 20
allele count: 3
allele frequency: 6.948304613674263e-5
allele num: 43176
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000360191
  ensembl transcript: ENST00000371149
  gene symbol: APCDD1L
  hgvsc: ENST00000371149.3:c.-34G>A
  variant of: http://identifiers.org/hgnc/26892
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000396856
  ensembl transcript: ENST00000425773
  gene symbol: APCDD1L
  hgvsc: ENST00000425773.1:c.-172G>A
  variant of: http://identifiers.org/hgnc/26892
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000413261
  ensembl transcript: ENST00000439429
  gene symbol: APCDD1L
  hgvsc: ENST00000439429.1:c.-172G>A
  variant of: http://identifiers.org/hgnc/26892
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16128
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3284
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2470
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14740
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1949
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24526
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-57089803-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57089803
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57089803
    reference: chr 20
allele count: 1
allele frequency: 2.575726354832063e-5
allele num: 38824
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000396856
  ensembl transcript: ENST00000425773
  gene symbol: APCDD1L
  hgvsc: ENST00000425773.1:c.-178G>C
  variant of: http://identifiers.org/hgnc/26892
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000360191
  ensembl transcript: ENST00000371149
  gene symbol: APCDD1L
  hgvsc: ENST00000371149.3:c.-40G>C
  variant of: http://identifiers.org/hgnc/26892
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000413261
  ensembl transcript: ENST00000439429
  gene symbol: APCDD1L
  hgvsc: ENST00000439429.1:c.-178G>C
  variant of: http://identifiers.org/hgnc/26892
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3585
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2101
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20937
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

20-57089806-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57089806
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57089806
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 37036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000396856
  ensembl transcript: ENST00000425773
  gene symbol: APCDD1L
  hgvsc: ENST00000425773.1:c.-181A>G
  variant of: http://identifiers.org/hgnc/26892
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000360191
  ensembl transcript: ENST00000371149
  gene symbol: APCDD1L
  hgvsc: ENST00000371149.3:c.-43A>G
  variant of: http://identifiers.org/hgnc/26892
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000413261
  ensembl transcript: ENST00000439429
  gene symbol: APCDD1L
  hgvsc: ENST00000439429.1:c.-181A>G
  variant of: http://identifiers.org/hgnc/26892
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 21358
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13429
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2842
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

20-57089814-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57089814
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57089814
    reference: chr 20
allele count: 1822
allele frequency: 6.949954226426609e-2
allele num: 26216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000413261
  ensembl transcript: ENST00000439429
  gene symbol: APCDD1L
  hgvsc: ENST00000439429.1:c.-189C>T
  variant of: http://identifiers.org/hgnc/26892
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000396856
  ensembl transcript: ENST00000425773
  gene symbol: APCDD1L
  hgvsc: ENST00000425773.1:c.-189C>T
  variant of: http://identifiers.org/hgnc/26892
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000198768
  ensembl protein: ENSP00000360191
  ensembl transcript: ENST00000371149
  gene symbol: APCDD1L
  hgvsc: ENST00000371149.3:c.-51C>T
  variant of: http://identifiers.org/hgnc/26892
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11298
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  variant carriers: 1240
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 261
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1772
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 386
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 91
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 92
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 92
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 117
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 430
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  variant carriers: 56
genotype quality: GenotypeQuality
  all individuals: 2363
  bin: 3.25e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 12732
  bin: 7.5e0
  variant carriers: 84
num of homozygotes: 55
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

20-57210119-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57210119
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57210119
    reference: chr 20
allele count: 2
allele frequency: 3.333333333333333e-1
allele num: 6
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000268941
  ensembl protein: ENSP00000470694
  ensembl transcript: ENST00000598340
  gene symbol: MGC4294
  hgvsc: ENST00000598340.1:c.-14G>A
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3106
  bin: 2.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 1
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 2.5e-1
  allele num: 4
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

20-57210253-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57210253
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57210253
    reference: chr 20
allele count: 0
allele frequency: 0.0e0
allele num: 16
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000268941
  ensembl protein: ENSP00000470694
  ensembl transcript: ENST00000598340
  gene symbol: MGC4294
  hgvsc: ENST00000598340.1:c.121C>T
  hgvsp: ENSP00000470694.1:p.Arg41Cys
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Arg41Cys
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6
  num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
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20-57210254-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57210254
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57210254
    reference: chr 20
allele count: 10
allele frequency: 3.846153846153846e-1
allele num: 26
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000268941
  ensembl protein: ENSP00000470694
  ensembl transcript: ENST00000598340
  gene symbol: MGC4294
  hgvsc: ENST00000598340.1:c.122G>A
  hgvsp: ENSP00000470694.1:p.Arg41His
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
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genotype depth: GenotypeDepth
  all individuals: 0
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genotype depth: GenotypeDepth
  all individuals: 160
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Arg41His
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 4
  allele frequency: 3.333333333333333e-1
  allele num: 12
  num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
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site quality: DP

20-57210370-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57210370
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57210370
    reference: chr 20
allele count: 1
allele frequency: 1.666666666666667e-1
allele num: 6
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000268941
  ensembl protein: ENSP00000470694
  ensembl transcript: ENST00000598340
  gene symbol: MGC4294
  hgvsc: ENST00000598340.1:c.238C>T
  hgvsp: ENSP00000470694.1:p.Pro80Ser
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Pro80Ser
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-57227016-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227016
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227016
    reference: chr 20
allele count: 5
allele frequency: 4.16340533248955e-5
allele num: 120094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-113A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.-47A>T
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-113A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-113A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-113A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.-47A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.215A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.-47A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.-47A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.-47A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.-47A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-113A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.-47A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-113A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-113A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-113A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-113A>T
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14026
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1572
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

20-57227019-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227019
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227019
    reference: chr 20
allele count: 1
allele frequency: 8.327781479013991e-6
allele num: 120080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-110A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-110A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.218A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.-44A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.-44A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-110A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.-44A>T
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-110A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.-44A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.-44A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.-44A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-110A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-110A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-110A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.-44A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-110A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-110A>T
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14055
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7765
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff

20-57227024-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227024
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227024
    reference: chr 20
allele count: 1
allele frequency: 8.321682977165302e-6
allele num: 120168
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-105G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-105G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.-39G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.-39G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.223G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-105G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.-39G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.-39G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.-39G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-105G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-105G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.-39G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-105G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-105G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-105G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-105G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.-39G>A
  variant of: http://identifiers.org/hgnc/41993
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8281
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/20-57227025-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227025
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227025
    reference: chr 20
allele count: 1
allele frequency: 8.332638946754437e-6
allele num: 120010
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-104C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-104C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.-38C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.224C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.-38C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.-38C>A
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-104C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.-38C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-104C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.-38C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-104C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.-38C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-104C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.-38C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-104C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-104C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-104C>A
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

20-57227031-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227031
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227030
    reference: chr 20
allele count: 1
allele frequency: 8.311032063961702e-6
allele num: 120322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.-28delC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-94delC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-94delC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.-28delC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.-28delC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.-28delC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.-28delC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.-28delC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.234delC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-94delC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-94delC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-94delC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.-28delC
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-94delC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-94delC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-94delC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-94delC
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20608
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1912
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: GC
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

20-57227032-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227032
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227032
    reference: chr 20
allele count: 2
allele frequency: 1.66220641279234e-5
allele num: 120322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.-31C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-97C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.-31C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-97C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-97C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.-31C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.-31C>G
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-97C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-97C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.-31C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.-31C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-97C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-97C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.231C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-97C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.-31C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-97C>G
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7143
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/20-57227038-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227038
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227038
    reference: chr 20
allele count: 67
allele frequency: 5.555831965106059e-4
allele num: 120594
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-91A>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.-25A>C
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.-25A>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.-25A>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-91A>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.-25A>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-91A>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-91A>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.-25A>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-91A>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.-25A>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-91A>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.237A>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-91A>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-91A>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-91A>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.-25A>C
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20851
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9183
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum

20-57227040-A-AG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227040
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227041
    reference: chr 20
allele count: 1
allele frequency: 8.288987251537607e-6
allele num: 120642
alternate allele: AG
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-83dupG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.-17dupG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.-17dupG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-83dupG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-83dupG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.-17dupG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-83dupG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.-17dupG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-83dupG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-83dupG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.245dupG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.-17dupG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.-17dupG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.-17dupG
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-83dupG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-83dupG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-83dupG
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

20-57227041-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227041
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227041
    reference: chr 20
allele count: 2
allele frequency: 1.656863557286057e-5
allele num: 120710
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-88G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-88G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-88G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-88G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.-22G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-88G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.-22G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.-22G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.-22G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.-22G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.-22G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.-22G>C
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.240G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-88G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-88G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-88G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-88G>C
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14396
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20958
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

20-57227046-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227046
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227046
    reference: chr 20
allele count: 2
allele frequency: 1.654861984510492e-5
allele num: 120856
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.245G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-83G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-83G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-83G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.-17G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.-17G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.-17G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.-17G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.-17G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.-17G>A
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.-17G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-83G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-83G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-83G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-83G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-83G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-83G>A
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21033
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1910
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ

20-57227046-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227046
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227046
    reference: chr 20
allele count: 1
allele frequency: 8.274309922552459e-6
allele num: 120856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.-17G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.-17G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-83G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.-17G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-83G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.-17G>T
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-83G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-83G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.-17G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-83G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-83G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.-17G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-83G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.245G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.-17G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-83G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-83G>T
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

20-57227048-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227048
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227048
    reference: chr 20
allele count: 1
allele frequency: 8.271161767381846e-6
allele num: 120902
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-81C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.-15C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-81C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-81C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-81C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.-15C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-81C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-81C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.-15C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.-15C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.-15C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-81C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.-15C>G
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-81C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.247C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.-15C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-81C>G
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9339
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

20-57227055-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227055
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227055
    reference: chr 20
allele count: 1
allele frequency: 8.258593066085262e-6
allele num: 121086
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.-8G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-74G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.-8G>C
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.254G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.-8G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-74G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.-8G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-74G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-74G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.-8G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-74G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-74G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.-8G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.-8G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-74G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-74G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-74G>C
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21185
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/20-57227083-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227083
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227083
    reference: chr 20
allele count: 3
allele frequency: 2.473247704001715e-5
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-46C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.21C>A
  hgvsp: ENST00000355957.5:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.21C>A
  hgvsp: ENST00000361770.5:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.21C>A
  hgvsp: ENST00000361830.3:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-46C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.2C>A
  hgvsp: ENST00000493301.1:c.2C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.21C>A
  hgvsp: ENST00000467096.1:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.21C>A
  hgvsp: ENST00000464640.1:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.21C>A
  hgvsp: ENST00000358029.4:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-46C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.21C>A
  hgvsp: ENST00000371132.4:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-46C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.21C>A
  hgvsp: ENST00000371141.4:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.21C>A
  hgvsp: ENST00000530122.1:c.21C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-46C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.282C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-46C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-46C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-46C>A
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr7Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

20-57227083-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227083
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227083
    reference: chr 20
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: coding_sequence_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.2C>T
  hgvsp: ENST00000493301.1:c.2C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-46C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.21C>T
  hgvsp: ENST00000361770.5:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.21C>T
  hgvsp: ENST00000371132.4:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.21C>T
  hgvsp: ENST00000371141.4:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.21C>T
  hgvsp: ENST00000467096.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-46C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-46C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.21C>T
  hgvsp: ENST00000361830.3:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.282C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-46C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.21C>T
  hgvsp: ENST00000358029.4:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.21C>T
  hgvsp: ENST00000464640.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-46C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.21C>T
  hgvsp: ENST00000355957.5:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-46C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.21C>T
  hgvsp: ENST00000530122.1:c.21C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-46C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-46C>T
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr7Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ

20-57227087-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227087
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227087
    reference: chr 20
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-42G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-42G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.25G>A
  hgvsp: ENSP00000350723.4:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.25G>A
  hgvsp: ENSP00000354445.3:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-42G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.25G>A
  hgvsp: ENSP00000432414.1:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.25G>A
  hgvsp: ENSP00000457522.1:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-42G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-42G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-42G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.25G>A
  hgvsp: ENSP00000348229.5:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-42G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-42G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.25G>A
  hgvsp: ENSP00000434369.1:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.25G>A
  hgvsp: ENSP00000360173.4:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-42G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.25G>A
  hgvsp: ENSP00000355408.5:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.286G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.25G>A
  hgvsp: ENSP00000360183.4:p.Ala9Thr
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala9Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

20-57227087-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227087
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227087
    reference: chr 20
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.25G>C
  hgvsp: ENSP00000457522.1:p.Ala9Pro
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.25G>C
  hgvsp: ENSP00000350723.4:p.Ala9Pro
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-42G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-42G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.25G>C
  hgvsp: ENSP00000360183.4:p.Ala9Pro
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.6G>C
  hgvsp: ENSP00000436667.1:p.Ala3Pro
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-42G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.25G>C
  hgvsp: ENSP00000434369.1:p.Ala9Pro
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.25G>C
  hgvsp: ENSP00000360173.4:p.Ala9Pro
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.286G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.25G>C
  hgvsp: ENSP00000355408.5:p.Ala9Pro
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-42G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.25G>C
  hgvsp: ENSP00000348229.5:p.Ala9Pro
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-42G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.25G>C
  hgvsp: ENSP00000354445.3:p.Ala9Pro
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-42G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.25G>C
  hgvsp: ENSP00000432414.1:p.Ala9Pro
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-42G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-42G>C
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala9Pro
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-57227088-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227088
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227088
    reference: chr 20
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.26C>G
  hgvsp: ENSP00000457522.1:p.Ala9Gly
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-41C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-41C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.26C>G
  hgvsp: ENSP00000434369.1:p.Ala9Gly
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.26C>G
  hgvsp: ENSP00000350723.4:p.Ala9Gly
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-41C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-41C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.26C>G
  hgvsp: ENSP00000355408.5:p.Ala9Gly
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-41C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.26C>G
  hgvsp: ENSP00000348229.5:p.Ala9Gly
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-41C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.26C>G
  hgvsp: ENSP00000360183.4:p.Ala9Gly
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.26C>G
  hgvsp: ENSP00000354445.3:p.Ala9Gly
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.26C>G
  hgvsp: ENSP00000360173.4:p.Ala9Gly
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.26C>G
  hgvsp: ENSP00000432414.1:p.Ala9Gly
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.7C>G
  hgvsp: ENSP00000436667.1:p.Ala3Gly
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.287C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-41C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-41C>G
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala9Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

20-57227092-CTTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227092
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227089
    reference: chr 20
allele count: 1
allele frequency: 8.242256400112095e-6
allele num: 121326
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-30_-30-28delTTG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.37_39delTTG
  hgvsp: ENSP00000355408.5:p.Leu13del
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.37_39delTTG
  hgvsp: ENSP00000434369.1:p.Leu13del
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-30_-42-28delTTG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.37_39delTTG
  hgvsp: ENSP00000350723.4:p.Leu13del
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-30_95-28delTTG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.37_39delTTG
  hgvsp: ENSP00000348229.5:p.Leu13del
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.37_39delTTG
  hgvsp: ENSP00000432414.1:p.Leu13del
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-30_-30-28delTTG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.37_39delTTG
  hgvsp: ENSP00000360173.4:p.Leu13del
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-30_120-28delTTG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.37_39delTTG
  hgvsp: ENSP00000457522.1:p.Leu13del
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-30_-148-28delTTG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.18_20delTTG
  hgvsp: ENSP00000436667.1:p.Leu7del
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.298_300delTTG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.37_39delTTG
  hgvsp: ENSP00000354445.3:p.Leu13del
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.37_39delTTG
  hgvsp: ENSP00000360183.4:p.Leu13del
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-30_-93-28delTTG
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-30_-42-28delTTG
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu13del
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: CTTG
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

20-57227095-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227095
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227095
    reference: chr 20
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-34G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.33G>C
  hgvsp: ENSP00000360183.4:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.33G>C
  hgvsp: ENSP00000360173.4:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.14G>C
  hgvsp: ENSP00000436667.1:p.Leu5Phe
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.33G>C
  hgvsp: ENSP00000432414.1:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.33G>C
  hgvsp: ENSP00000434369.1:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-34G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-34G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.33G>C
  hgvsp: ENSP00000350723.4:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-34G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-34G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.33G>C
  hgvsp: ENSP00000348229.5:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.294G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.33G>C
  hgvsp: ENSP00000457522.1:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-34G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.33G>C
  hgvsp: ENSP00000355408.5:p.Leu11Phe
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-34G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-34G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-34G>C
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu11Phe
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

20-57227104-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227104
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227104
    reference: chr 20
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.42G>C
  hgvsp: ENST00000371132.4:c.42G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.42G>C
  hgvsp: ENST00000464640.1:c.42G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.23G>C
  hgvsp: ENST00000493301.1:c.23G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.42G>C
  hgvsp: ENST00000361770.5:c.42G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-25G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-25G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.42G>C
  hgvsp: ENST00000358029.4:c.42G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.303G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.42G>C
  hgvsp: ENST00000371141.4:c.42G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-25G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-25G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.42G>C
  hgvsp: ENST00000530122.1:c.42G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.42G>C
  hgvsp: ENST00000467096.1:c.42G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-25G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.42G>C
  hgvsp: ENST00000355957.5:c.42G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-25G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-25G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-25G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-25G>C
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg14Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

20-57227113-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227113
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227113
    reference: chr 20
allele count: 2
allele frequency: 1.648098094798602e-5
allele num: 121352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-16C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.51C>T
  hgvsp: ENST00000358029.4:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.51C>T
  hgvsp: ENST00000361830.3:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.51C>T
  hgvsp: ENST00000355957.5:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.51C>T
  hgvsp: ENST00000530122.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-16C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.51C>T
  hgvsp: ENST00000371132.4:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.312C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-16C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-16C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.51C>T
  hgvsp: ENST00000371141.4:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.51C>T
  hgvsp: ENST00000464640.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.51C>T
  hgvsp: ENST00000467096.1:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-16C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-16C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-16C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.51C>T
  hgvsp: ENST00000361770.5:c.51C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.32C>T
  hgvsp: ENST00000493301.1:c.32C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-16C>T
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser17Ser
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

20-57227116-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227116
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227116
    reference: chr 20
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.54C>G
  hgvsp: ENSP00000457522.1:p.Ile18Met
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.54C>G
  hgvsp: ENSP00000348229.5:p.Ile18Met
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.315C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.35C>G
  hgvsp: ENSP00000436667.1:p.Ile12Met
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.54C>G
  hgvsp: ENSP00000350723.4:p.Ile18Met
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.54C>G
  hgvsp: ENSP00000360173.4:p.Ile18Met
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.54C>G
  hgvsp: ENSP00000432414.1:p.Ile18Met
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-13C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-13C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.54C>G
  hgvsp: ENSP00000355408.5:p.Ile18Met
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.54C>G
  hgvsp: ENSP00000434369.1:p.Ile18Met
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-13C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.54C>G
  hgvsp: ENSP00000354445.3:p.Ile18Met
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-13C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-13C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-13C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.54C>G
  hgvsp: ENSP00000360183.4:p.Ile18Met
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-13C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-13C>G
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ile18Met
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

20-57227122-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227122
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227122
    reference: chr 20
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.41C>T
  hgvsp: ENST00000493301.1:c.41C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.60C>T
  hgvsp: ENST00000358029.4:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-7C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-7C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.60C>T
  hgvsp: ENST00000355957.5:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.321C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.60C>T
  hgvsp: ENST00000530122.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-7C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.60C>T
  hgvsp: ENST00000464640.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.60C>T
  hgvsp: ENST00000361830.3:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-7C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-7C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-7C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-7C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-7C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.60C>T
  hgvsp: ENST00000371132.4:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.60C>T
  hgvsp: ENST00000361770.5:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.60C>T
  hgvsp: ENST00000467096.1:c.60C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-7C>T
  variant of: http://identifiers.org/hgnc/11431
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.-42-7C>T
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

20-57227123-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227123
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227123
    reference: chr 20
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.61C>T
  hgvsp: ENSP00000432414.1:p.Arg21Trp
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-6C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.61C>T
  hgvsp: ENSP00000360183.4:p.Arg21Trp
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.61C>T
  hgvsp: ENSP00000350723.4:p.Arg21Trp
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.322C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.61C>T
  hgvsp: ENSP00000360173.4:p.Arg21Trp
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.61C>T
  hgvsp: ENSP00000348229.5:p.Arg21Trp
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-6C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-6C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.61C>T
  hgvsp: ENSP00000434369.1:p.Arg21Trp
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.61C>T
  hgvsp: ENSP00000457522.1:p.Arg21Trp
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-6C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.61C>T
  hgvsp: ENSP00000355408.5:p.Arg21Trp
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.42C>T
  hgvsp: ENSP00000436667.1:p.Arg15Trp
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.61C>T
  hgvsp: ENSP00000354445.3:p.Arg21Trp
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-6C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-6C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-6C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-6C>T
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg21Trp
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

20-57227124-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227124
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227124
    reference: chr 20
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.62G>A
  hgvsp: ENSP00000432414.1:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.62G>A
  hgvsp: ENSP00000355408.5:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.62G>A
  hgvsp: ENSP00000360173.4:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-5G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30-5G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.323G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.43G>A
  hgvsp: ENSP00000436667.1:p.Arg15Gln
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.62G>A
  hgvsp: ENSP00000457522.1:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.62G>A
  hgvsp: ENSP00000348229.5:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-5G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.62G>A
  hgvsp: ENSP00000350723.4:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.62G>A
  hgvsp: ENSP00000360183.4:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-5G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.62G>A
  hgvsp: ENSP00000434369.1:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-5G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.62G>A
  hgvsp: ENSP00000354445.3:p.Arg21Gln
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-5G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-5G>A
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg21Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/20-57227126-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227126
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227126
    reference: chr 20
allele count: 2
allele frequency: 1.648098094798602e-5
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30-3C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.64C>A
  hgvsp: ENSP00000457522.1:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.64C>A
  hgvsp: ENSP00000355408.5:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.45C>A
  hgvsp: ENSP00000436667.1:p.Gln16Lys
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42-3C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.64C>A
  hgvsp: ENSP00000354445.3:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.64C>A
  hgvsp: ENSP00000350723.4:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42-3C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.64C>A
  hgvsp: ENSP00000434369.1:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95-3C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.64C>A
  hgvsp: ENSP00000360173.4:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.64C>A
  hgvsp: ENSP00000348229.5:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.64C>A
  hgvsp: ENSP00000360183.4:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93-3C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120-3C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148-3C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42-3C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.64C>A
  hgvsp: ENSP00000432414.1:p.Gln22Lys
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln22Lys
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

20-57227129-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227129
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227129
    reference: chr 20
allele count: 2
allele frequency: 1.648125257519571e-5
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-93C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.328C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.67C>T
  hgvsp: ENST00000361770.5:c.67C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.67C>T
  hgvsp: ENST00000371132.4:c.67C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.67C>T
  hgvsp: ENST00000371141.4:c.67C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-148C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.120C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.67C>T
  hgvsp: ENST00000358029.4:c.67C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.67C>T
  hgvsp: ENST00000464640.1:c.67C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-42C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-30C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.67C>T
  hgvsp: ENST00000361830.3:c.67C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.95C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-42C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-30C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.67C>T
  hgvsp: ENST00000530122.1:c.67C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.48C>T
  hgvsp: ENST00000493301.1:c.48C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.67C>T
  hgvsp: ENST00000355957.5:c.67C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-42C>T
  variant of: http://identifiers.org/hgnc/11431
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.-42C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

20-57227140-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227140
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227140
    reference: chr 20
allele count: 2
allele frequency: 1.648152421135907e-5
allele num: 121348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.78G>T
  hgvsp: ENSP00000354445.3:p.Glu26Asp
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.78G>T
  hgvsp: ENSP00000434369.1:p.Glu26Asp
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.78G>T
  hgvsp: ENSP00000360173.4:p.Glu26Asp
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-82G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.78G>T
  hgvsp: ENSP00000348229.5:p.Glu26Asp
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.106G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-19G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.78G>T
  hgvsp: ENSP00000360183.4:p.Glu26Asp
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-31G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.59G>T
  hgvsp: ENSP00000436667.1:p.Glu20Asp
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-31G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.78G>T
  hgvsp: ENSP00000457522.1:p.Glu26Asp
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-19G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-137G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-31G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.78G>T
  hgvsp: ENSP00000432414.1:p.Glu26Asp
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.78G>T
  hgvsp: ENSP00000350723.4:p.Glu26Asp
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.339G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.78G>T
  hgvsp: ENSP00000355408.5:p.Glu26Asp
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu26Asp
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

20-57227140-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227140
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227140
    reference: chr 20
allele count: 1
allele frequency: 8.240762105679534e-6
allele num: 121348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-19G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.78G>A
  hgvsp: ENST00000530122.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.78G>A
  hgvsp: ENST00000371132.4:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.78G>A
  hgvsp: ENST00000358029.4:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.59G>A
  hgvsp: ENST00000493301.1:c.59G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-31G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.106G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.78G>A
  hgvsp: ENST00000467096.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.131G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.78G>A
  hgvsp: ENST00000371141.4:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.339G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.78G>A
  hgvsp: ENST00000464640.1:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.78G>A
  hgvsp: ENST00000355957.5:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-82G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-19G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-31G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.78G>A
  hgvsp: ENST00000361770.5:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.78G>A
  hgvsp: ENST00000361830.3:c.78G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-137G>A
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu26Glu
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/20-57227142-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227142
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227142
    reference: chr 20
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.80A>C
  hgvsp: ENSP00000457522.1:p.Gln27Pro
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.341A>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.80A>C
  hgvsp: ENSP00000350723.4:p.Gln27Pro
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.80A>C
  hgvsp: ENSP00000355408.5:p.Gln27Pro
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.80A>C
  hgvsp: ENSP00000354445.3:p.Gln27Pro
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.80A>C
  hgvsp: ENSP00000432414.1:p.Gln27Pro
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.108A>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-80A>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-135A>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-29A>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.80A>C
  hgvsp: ENSP00000434369.1:p.Gln27Pro
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.80A>C
  hgvsp: ENSP00000360173.4:p.Gln27Pro
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.80A>C
  hgvsp: ENSP00000360183.4:p.Gln27Pro
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.80A>C
  hgvsp: ENSP00000348229.5:p.Gln27Pro
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-29A>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.61A>C
  hgvsp: ENSP00000436667.1:p.Gln21Pro
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.133A>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-17A>C
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gln27Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: VQSLOD

20-57227160-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227160
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227160
    reference: chr 20
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.79C>T
  hgvsp: ENSP00000436667.1:p.Thr27Ile
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000468590
  gene symbol: STX16
  hgvsc: ENST00000468590.1:n.8C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.98C>T
  hgvsp: ENSP00000360183.4:p.Thr33Ile
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-28+17C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.98C>T
  hgvsp: ENSP00000354445.3:p.Thr33Ile
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.98C>T
  hgvsp: ENSP00000457522.1:p.Thr33Ile
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.98C>T
  hgvsp: ENSP00000350723.4:p.Thr33Ile
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.359C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-16+17C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.109+17C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.81+17C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-62C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.81+17C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.81+17C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.81+17C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-134+17C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-16+17C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.134+17C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-28+17C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-28+17C>T
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr33Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

20-57227161-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227161
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227161
    reference: chr 20
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.80C>G
  hgvsp: ENST00000493301.1:c.80C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.81+18C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.134+18C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.360C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.81+18C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-16+18C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.81+18C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.99C>G
  hgvsp: ENST00000361830.3:c.99C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-28+18C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-16+18C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-134+18C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.99C>G
  hgvsp: ENST00000530122.1:c.99C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.99C>G
  hgvsp: ENST00000371141.4:c.99C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.99C>G
  hgvsp: ENST00000358029.4:c.99C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.81+18C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000468590
  gene symbol: STX16
  hgvsc: ENST00000468590.1:n.9C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-28+18C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-61C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.81+18C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.109+18C>G
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr33Thr
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

20-57227161-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227161
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227161
    reference: chr 20
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-61C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.134+18C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.99C>T
  hgvsp: ENST00000358029.4:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-134+18C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.109+18C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.99C>T
  hgvsp: ENST00000361830.3:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.81+18C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.360C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.80C>T
  hgvsp: ENST00000493301.1:c.80C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.81+18C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.99C>T
  hgvsp: ENST00000530122.1:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-28+18C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.99C>T
  hgvsp: ENST00000371141.4:c.99C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000468590
  gene symbol: STX16
  hgvsc: ENST00000468590.1:n.9C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-28+18C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-28+18C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-16+18C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.81+18C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.81+18C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.81+18C>T
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Thr33Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP

20-57227163-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227163
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227163
    reference: chr 20
allele count: 1
allele frequency: 8.24279991427488e-6
allele num: 121318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-16+20C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.101C>G
  hgvsp: ENSP00000360183.4:p.Ser34Cys
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-16+20C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.82C>G
  hgvsp: ENSP00000436667.1:p.Ser28Cys
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-28+20C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.81+20C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.362C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.101C>G
  hgvsp: ENSP00000457522.1:p.Ser34Cys
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-134+20C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-59C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.81+20C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.81+20C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.101C>G
  hgvsp: ENSP00000354445.3:p.Ser34Cys
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000468590
  gene symbol: STX16
  hgvsc: ENST00000468590.1:n.11C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.81+20C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.101C>G
  hgvsp: ENSP00000350723.4:p.Ser34Cys
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-28+20C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.134+20C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.109+20C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-28+20C>G
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser34Cys
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/20-57227168-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227168
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227168
    reference: chr 20
allele count: 80
allele frequency: 6.59532721067124e-4
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.106C>A
  hgvsp: ENSP00000350723.4:p.Pro36Thr
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.109+25C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-16+25C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.81+25C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.367C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-134+25C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.106C>A
  hgvsp: ENSP00000360183.4:p.Pro36Thr
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-28+25C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.106C>A
  hgvsp: ENSP00000354445.3:p.Pro36Thr
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.81+25C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000468590
  gene symbol: STX16
  hgvsc: ENST00000468590.1:n.16C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-54C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.106C>A
  hgvsp: ENSP00000457522.1:p.Pro36Thr
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.81+25C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-16+25C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-28+25C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.87C>A
  hgvsp: ENSP00000436667.1:p.Pro30Thr
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.134+25C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.81+25C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.81+25C>A
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro36Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

20-57227168-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227168
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227168
    reference: chr 20
allele count: 9
allele frequency: 7.419743112005144e-5
allele num: 121298
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.81+25C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-134+25C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.106C>T
  hgvsp: ENSP00000360183.4:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-28+25C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.81+25C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-54C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-16+25C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-28+25C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.109+25C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-16+25C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.106C>T
  hgvsp: ENSP00000354445.3:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.367C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.106C>T
  hgvsp: ENSP00000457522.1:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.106C>T
  hgvsp: ENSP00000350723.4:p.Pro36Ser
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.81+25C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.87C>T
  hgvsp: ENSP00000436667.1:p.Pro30Ser
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.134+25C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.81+25C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-28+25C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.81+25C>T
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro36Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

20-57227179-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227179
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227179
    reference: chr 20
allele count: 1
allele frequency: 8.248647221855616e-6
allele num: 121232
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-28+36A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-16+36A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-16+36A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.117A>T
  hgvsp: ENST00000361830.3:c.117A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.98A>T
  hgvsp: ENST00000493301.1:c.98A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.117A>T
  hgvsp: ENST00000371141.4:c.117A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000468590
  gene symbol: STX16
  hgvsc: ENST00000468590.1:n.27A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.117A>T
  hgvsp: ENST00000530122.1:c.117A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.81+36A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-43A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.117A>T
  hgvsp: ENST00000358029.4:c.117A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.81+36A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-28+36A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.81+36A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.109+36A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.81+36A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.81+36A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-28+36A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.378A>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-134+36A>T
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser39Ser
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/20-57227180-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227180
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227180
    reference: chr 20
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.118C>A
  hgvsp: ENSP00000457522.1:p.Arg40Ser
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.379C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.134+37C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-16+37C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.118C>A
  hgvsp: ENSP00000350723.4:p.Arg40Ser
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-28+37C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-42C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.99C>A
  hgvsp: ENSP00000436667.1:p.Arg34Ser
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.118C>A
  hgvsp: ENSP00000360183.4:p.Arg40Ser
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.81+37C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.81+37C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.81+37C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.118C>A
  hgvsp: ENSP00000354445.3:p.Arg40Ser
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.81+37C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.81+37C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-134+37C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000468590
  gene symbol: STX16
  hgvsc: ENST00000468590.1:n.28C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-16+37C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-28+37C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-28+37C>A
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg40Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP

20-57227180-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227180
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227180
    reference: chr 20
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-16+37C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-28+37C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.118C>G
  hgvsp: ENSP00000354445.3:p.Arg40Gly
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.118C>G
  hgvsp: ENSP00000360183.4:p.Arg40Gly
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.118C>G
  hgvsp: ENSP00000350723.4:p.Arg40Gly
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.109+37C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-42C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000468590
  gene symbol: STX16
  hgvsc: ENST00000468590.1:n.28C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.81+37C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-16+37C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-134+37C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-28+37C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.118C>G
  hgvsp: ENSP00000457522.1:p.Arg40Gly
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.134+37C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.99C>G
  hgvsp: ENSP00000436667.1:p.Arg34Gly
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-28+37C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.81+37C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.81+37C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.379C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.81+37C>G
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg40Gly
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

20-57227185-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227185
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227185
    reference: chr 20
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-28+42C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-16+42C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.123C>T
  hgvsp: ENST00000530122.1:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-37C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.384C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.123C>T
  hgvsp: ENST00000361830.3:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.81+42C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.81+42C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.81+42C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.109+42C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000468590
  gene symbol: STX16
  hgvsc: ENST00000468590.1:n.33C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.123C>T
  hgvsp: ENST00000358029.4:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.123C>T
  hgvsp: ENST00000371141.4:c.123C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.81+42C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.134+42C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-16+42C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.81+42C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-28+42C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.104C>T
  hgvsp: ENST00000493301.1:c.104C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-28+42C>T
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser41Ser
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD

20-57227202-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227202
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227202
    reference: chr 20
allele count: 3
allele frequency: 2.480404802063697e-5
allele num: 120948
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.81+59T>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.113+8T>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000468590
  gene symbol: STX16
  hgvsc: ENST00000468590.1:n.42+8T>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-28+59T>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-134+59T>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-16+59T>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-28+59T>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.109+59T>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.81+59T>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.81+59T>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.132+8T>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.132+8T>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-16+59T>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.393+8T>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.132+8T>A
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-28+8T>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.81+59T>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.81+59T>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-28+59T>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.134+59T>A
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.132+8T>A
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/20-57227208-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227208
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227208
    reference: chr 20
allele count: 2
allele frequency: 1.65508109897385e-5
allele num: 120840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.134+65C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.81+65C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-28+65C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-28+65C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000468590
  gene symbol: STX16
  hgvsc: ENST00000468590.1:n.42+14C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.81+65C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-16+65C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.132+14C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.109+65C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.132+14C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.132+14C>A
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.393+14C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.81+65C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.81+65C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-134+65C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.113+14C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-16+65C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.81+65C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-28+14C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.132+14C>A
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD

20-57227209-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227209
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227209
    reference: chr 20
allele count: 429
allele frequency: 3.54997269251775e-3
allele num: 120846
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.132+15G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-16+66G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.132+15G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.81+66G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.109+66G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.81+66G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.132+15G>A
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-28+66G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.134+66G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.393+15G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000468590
  gene symbol: STX16
  hgvsc: ENST00000468590.1:n.42+15G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-134+66G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-16+66G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.81+66G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.81+66G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.113+15G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-28+66G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-28+66G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.132+15G>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-28+15G>A
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 5
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

20-57227209-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227209
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227209
    reference: chr 20
allele count: 1
allele frequency: 8.274994621253496e-6
allele num: 120846
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.81+66G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.113+15G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.81+66G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.81+66G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-28+66G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-28+66G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000468590
  gene symbol: STX16
  hgvsc: ENST00000468590.1:n.42+15G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.132+15G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-28+66G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.81+66G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.393+15G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.132+15G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.81+66G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-16+66G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.109+66G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.134+66G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.132+15G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-16+66G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.132+15G>T
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-134+66G>T
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

20-57227214-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227214
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227214
    reference: chr 20
allele count: 1
allele frequency: 8.276912380605539e-6
allele num: 120818
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.113+20C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.109+71C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.393+20C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.81+71C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.81+71C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.132+20C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.81+71C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.134+71C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-28+71C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-16+71C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-28+71C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.81+71C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.132+20C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.81+71C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-134+71C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-28+71C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.132+20C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000468590
  gene symbol: STX16
  hgvsc: ENST00000468590.1:n.42+20C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-28+20C>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-16+71C>T
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/20-57227217-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227217
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227217
    reference: chr 20
allele count: 5
allele frequency: 4.140855335078013e-5
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.81+74C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.81+74C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.81+74C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000468590
  gene symbol: STX16
  hgvsc: ENST00000468590.1:n.42+23C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.81+74C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.113+23C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-28+74C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-28+74C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.393+23C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-28+74C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.132+23C>A
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.132+23C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-16+74C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.134+74C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-134+74C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.109+74C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-28+23C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-16+74C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.132+23C>A
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.81+74C>A
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

20-57227217-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227217
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227217
    reference: chr 20
allele count: 7
allele frequency: 5.797197469109219e-5
allele num: 120748
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-28+74C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.132+23C>G
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.109+74C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.132+23C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.81+74C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.81+74C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.132+23C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-28+74C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-28+23C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-28+74C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-16+74C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000468590
  gene symbol: STX16
  hgvsc: ENST00000468590.1:n.42+23C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.393+23C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.113+23C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.81+74C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.134+74C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.132+23C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.81+74C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-16+74C>G
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.81+74C>G
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

20-57227218-GAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227218
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227216
    reference: chr 20
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.393+29_393+30delAC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.132+29_132+30delAC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000468590
  gene symbol: STX16
  hgvsc: ENST00000468590.1:n.42+29_42+30delAC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-28+80_-28+81delAC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-16+80_-16+81delAC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.134+80_134+81delAC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.81+80_81+81delAC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-28+29_-28+30delAC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.81+80_81+81delAC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-28+80_-28+81delAC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-16+80_-16+81delAC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.132+29_132+30delAC
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.113+29_113+30delAC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.81+80_81+81delAC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.81+80_81+81delAC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.109+80_109+81delAC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.132+29_132+30delAC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.81+80_81+81delAC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-134+80_-134+81delAC
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.132+29_132+30delAC
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: GAC
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

20-57227225-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227225
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227225
    reference: chr 20
allele count: 1
allele frequency: 8.2847295864263e-6
allele num: 120704
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.81+82G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.81+82G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.81+82G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.113+31G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000468590
  gene symbol: STX16
  hgvsc: ENST00000468590.1:n.42+31G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.132+31G>C
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.134+82G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-28+82G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.393+31G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-134+82G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-16+82G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.81+82G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.132+31G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-28+31G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-28+82G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.132+31G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-28+82G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000354445
  ensembl transcript: ENST00000361830
  gene symbol: STX16
  hgvsc: ENST00000361830.3:c.132+31G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.81+82G>C
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.109+82G>C
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD

20-57227225-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 57227225
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 57227225
    reference: chr 20
allele count: 2
allele frequency: 1.65694591728526e-5
allele num: 120704
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432823
  ensembl transcript: ENST00000483434
  gene symbol: STX16
  hgvsc: ENST00000483434.1:c.-16+82G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000436667
  ensembl transcript: ENST00000493301
  gene symbol: STX16
  hgvsc: ENST00000493301.1:c.113+31G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360173
  ensembl transcript: ENST00000371132
  gene symbol: STX16
  hgvsc: ENST00000371132.4:c.81+82G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000435118
  ensembl transcript: ENST00000460655
  gene symbol: STX16
  hgvsc: ENST00000460655.1:c.-28+82G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000434369
  ensembl transcript: ENST00000467096
  gene symbol: STX16
  hgvsc: ENST00000467096.1:c.81+82G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000468590
  gene symbol: STX16
  hgvsc: ENST00000468590.1:n.42+31G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000348229
  ensembl transcript: ENST00000355957
  gene symbol: STX16
  hgvsc: ENST00000355957.5:c.81+82G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000388348
  ensembl transcript: ENST00000458280
  gene symbol: STX16
  hgvsc: ENST00000458280.1:c.-28+82G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000416852
  ensembl transcript: ENST00000412911
  gene symbol: STX16
  hgvsc: ENST00000412911.1:c.-28+82G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000254995
  ensembl protein: ENSP00000457522
  ensembl transcript: ENST00000530122
  gene symbol: STX16-NPEPL1
  hgvsc: ENST00000530122.1:c.132+31G>T
  variant of: http://identifiers.org/hgnc/41993
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000432414
  ensembl transcript: ENST00000464640
  gene symbol: STX16
  hgvsc: ENST00000464640.1:c.81+82G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000437209
  ensembl transcript: ENST00000476384
  gene symbol: STX16
  hgvsc: ENST00000476384.1:c.-134+82G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496003
  gene symbol: STX16
  hgvsc: ENST00000496003.1:n.393+31G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000312086
  ensembl transcript: ENST00000312283
  gene symbol: STX16
  hgvsc: ENST00000312283.8:c.-16+82G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000352634
  ensembl transcript: ENST00000359617
  gene symbol: STX16
  hgvsc: ENST00000359617.4:c.-28+31G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000360183
  ensembl transcript: ENST00000371141
  gene symbol: STX16
  hgvsc: ENST00000371141.4:c.132+31G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000350723
  ensembl transcript: ENST00000358029
  gene symbol: STX16
  hgvsc: ENST00000358029.4:c.132+31G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000496117
  gene symbol: STX16
  hgvsc: ENST00000496117.1:n.109+82G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl transcript: ENST00000490700
  gene symbol: STX16
  hgvsc: ENST00000490700.1:n.134+82G>T
  variant of: http://identifiers.org/hgnc/11431
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000124222
  ensembl protein: ENSP00000355408
  ensembl transcript: ENST00000361770
  gene symbol: STX16
  hgvsc: ENST00000361770.5:c.81+82G>T
  variant of: http://identifiers.org/hgnc/11431
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

20-57227226-G-T
type: Variant
location: Region
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: T
canonical: true
consequence: intron
filter: PASS
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 14
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5384
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5832
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2524
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.072558588512898e-4
allele num: 37294
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.83e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.991e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

FS
type: SiteQuality
SIO_000300: 6.422e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.137e1

DP
type: SiteQuality
SIO_000300: 6.85453e5

GenotypeQuality
all individuals: 13
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.902587519025875e-4
allele num: 5256
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5314
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34794
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: 2292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4990
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3976
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.27e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

FS
type: SiteQuality
SIO_000300: 7.272e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.71e0

MQRankSum
type: SiteQuality
SIO_000300: -1.341e0

VQSLOD
type: SiteQuality
SIO_000300: -1.946e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.364e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.14e-2

DP
type: SiteQuality
SIO_000300: 6.28261e5

GenotypeQuality
all individuals: 93
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 34532
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2262
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5212
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 1.012145748987854e-3
allele num: 3952
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.099999999999999e-2

DP
type: SiteQuality
SIO_000300: 6.21071e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.13e-2

FS
type: SiteQuality
SIO_000300: 4.316e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.077e1

GenotypeQuality
all individuals: 1049
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32898
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4762
num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 3.990422984836393e-4
allele num: 5012
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 4904
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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DP
type: SiteQuality
SIO_000300: 5.84707e5

QD
type: SiteQuality
SIO_000300: 1.691e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4056
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 3400
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1560
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 4080
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.119737234995521e-4
allele num: 26792
num of homozygotes: 0

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

QD
type: SiteQuality
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VQSLOD
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MQRankSum
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ClippingRankSum
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SIO_000300: -7.41e-1

BaseQRankSum
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SIO_000300: -3.65e-1

MQ
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FS
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DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -3.24e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.41e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1366
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 2756
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3750
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 4.128137384412153e-5
allele num: 24224
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 2808
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3716
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.68e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.287e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.87e-1

DP
type: SiteQuality
SIO_000300: 4.55419e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

QD
type: SiteQuality
SIO_000300: 1.678e1

GenotypeQuality
all individuals: 44
bin: 7.75e1
variant carriers: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1308
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 3566
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 3622
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 23088
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

VQSLOD
type: SiteQuality
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MQ
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SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.38e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

InbreedingCoeff
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SIO_000300: -3.74e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.38e0

DP
type: SiteQuality
SIO_000300: 4.43837e5

GenotypeQuality
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bin: 7.75e1
variant carriers: 47

South Asian
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allele count: 137
allele frequency: 6.989795918367347e-2
allele num: 1960
num of homozygotes: 5

Latino
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allele count: 50
allele frequency: 3.462603878116344e-2
allele num: 1444
num of homozygotes: 0

European (Finnish)
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allele frequency: 1.046511627906977e-1
allele num: 946
num of homozygotes: 2

Other
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allele count: 11
allele frequency: 9.016393442622951e-2
allele num: 122
num of homozygotes: 0

East Asian
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allele frequency: 8.832224685883222e-2
allele num: 2706
num of homozygotes: 4

African
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allele count: 79
allele frequency: 2.771929824561404e-2
allele num: 2850
num of homozygotes: 1

European (Non-Finnish)
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allele count: 1207
allele frequency: 7.456140350877193e-2
allele num: 16188
num of homozygotes: 43

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
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SIO_000300: 0.0e0

DP
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BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.01e-2

QD
type: SiteQuality
SIO_000300: 1.685e1

VQSLOD
type: SiteQuality
SIO_000300: 5.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 5.0e-1
allele num: 2
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DP
type: SiteQuality
SIO_000300: 7.109e3

FS
type: SiteQuality
SIO_000300: 3.155e0

VQSLOD
type: SiteQuality
SIO_000300: 8.0e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 1.488e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.008e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.507e3

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQ
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SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.861e1

FS
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SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.036e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

Other
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
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allele count: 5
allele frequency: 4.166666666666667e-1
allele num: 12
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 5.0e-1
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.472e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.169e-1

VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQRankSum
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QD
type: SiteQuality
SIO_000300: 2.187e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 7.085e3

Latino
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
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allele count: 1
allele frequency: 2.5e-1
allele num: 4
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
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Other
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allele count: 0
allele frequency: NaN
allele num: 0
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South Asian
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allele count: 0
allele frequency: NaN
allele num: 0
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DP
type: SiteQuality
SIO_000300: 6.086e3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
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SIO_000300: 1.141e1

InbreedingCoeff
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SIO_000300: -1.056e-1

MQ
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SIO_000300: 6.0e1

ClippingRankSum
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SIO_000300: -2.148e0

VQSLOD
type: SiteQuality
SIO_000300: -4.983e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.45e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.268e0

GenotypeDepth
all individuals: 3610
bin: 4.25e1
variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

European (Non-Finnish)
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allele count: 5
allele frequency: 7.551045064636945e-5
allele num: 66216
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

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

Other
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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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BaseQRankSum
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SIO_000300: 2.37e0

VQSLOD
type: SiteQuality
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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DP
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SIO_000300: 1.857583e6

InbreedingCoeff
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SIO_000300: 7.0e-4

MQ
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SIO_000300: 6.0e1

QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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Latino
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allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

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

East Asian
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African
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allele frequency: 9.895111814763506e-5
allele num: 10106
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16236
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.86047e6

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

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.515151515151515e-4
allele num: 6600
num of homozygotes: 0

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

ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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QD
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MQ
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BaseQRankSum
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SIO_000300: -3.57e0

ClippingRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

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

Other
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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

East Asian
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African
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allele frequency: 9.891196834817012e-5
allele num: 10110
num of homozygotes: 0

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

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

DP
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BaseQRankSum
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MQ
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ClippingRankSum
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VQSLOD
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FS
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InbreedingCoeff
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MQRankSum
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SIO_000300: 4.8e-1

ReadPosRankSum
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QD
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GenotypeDepth
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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66300
num of homozygotes: 0

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

South Asian
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allele count: 1
allele frequency: 6.140997297961189e-5
allele num: 16284
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
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SIO_000300: -1.424e0

MQRankSum
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SIO_000300: 1.53e0

FS
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DP
type: SiteQuality
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MQ
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SIO_000300: 6.024e1

InbreedingCoeff
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SIO_000300: 0.0e0

VQSLOD
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ReadPosRankSum
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SIO_000300: 7.98e-1

QD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 2.13e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11500
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 900
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 1.229105211406096e-4
allele num: 16272
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66298
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6600
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
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QD
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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FS
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MQRankSum
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DP
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ClippingRankSum
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GenotypeDepth
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variant carriers: 3

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

European (Non-Finnish)
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allele count: 9
allele frequency: 1.355544175678525e-4
allele num: 66394
num of homozygotes: 0

Other
type: Population
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Latino
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allele frequency: 3.474635163307853e-4
allele num: 11512
num of homozygotes: 0

European (Finnish)
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allele count: 0
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South Asian
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allele frequency: 3.301540719002201e-3
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East Asian
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allele frequency: 0.0e0
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African
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QD
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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FS
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MQRankSum
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InbreedingCoeff
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DP
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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South Asian
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allele num: 16358
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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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Other
type: Population
allele count: 0
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
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ReadPosRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
type: SiteQuality
SIO_000300: 1.099e1

GenotypeDepth
all individuals: 9270
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 78
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7164
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 908
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 480
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 515
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1909
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1860
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5699
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4130
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 152
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4253
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7323
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2627
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9465
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24051
bin: 6.25e1
variant carriers: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16374
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010869237948996e-5
allele num: 66426
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.663e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.890987e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.36e0

QD
type: SiteQuality
SIO_000300: 1.419e1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e0

VQSLOD
type: SiteQuality
SIO_000300: -1.216e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.87e-1

GenotypeDepth
all individuals: 190
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 79
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 239
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 265
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3637
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 513
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 905
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 384
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2632
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7329
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24140
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9509
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4166
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5730
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1863
bin: 8.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00815209216978e-5
allele num: 66486
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.277e0

DP
type: SiteQuality
SIO_000300: 1.893347e6

MQRankSum
type: SiteQuality
SIO_000300: -1.137e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 4.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.46e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeDepth
all individuals: 14430
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 265
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 239
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3637
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1910
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21033
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 905
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 79
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 318
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5730
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9509
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 119
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2632
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24140
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4166
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7329
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 140
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1863
bin: 8.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50407604608489e-5
allele num: 66486
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 3.34e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.137e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.322e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.277e0

DP
type: SiteQuality
SIO_000300: 1.893347e6

FS
type: SiteQuality
SIO_000300: 4.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeDepth
all individuals: 905
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21090
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1909
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14435
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2633
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5730
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 109
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9531
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1864
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4275
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4166
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24187
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7327
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503623733197005e-5
allele num: 66506
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.455e1

MQRankSum
type: SiteQuality
SIO_000300: 3.6e-2

FS
type: SiteQuality
SIO_000300: 4.297e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.86e-1

DP
type: SiteQuality
SIO_000300: 1.894442e6

GenotypeDepth
all individuals: 14477
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1912
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7172
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9498
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 243
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9568
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 113
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24437
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7329
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5751
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 79
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1865
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4289
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2636
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4192
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502087902184036e-5
allele num: 66574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16470
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.067e1

FS
type: SiteQuality
SIO_000300: 3.67e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.42e-1

DP
type: SiteQuality
SIO_000300: 1.898276e6

MQRankSum
type: SiteQuality
SIO_000300: -7.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000432823
ensembl transcript: ENST00000483434
gene symbol: STX16
hgvsc: ENST00000483434.1:c.-30-46C>A
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 9551
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 191
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 301
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1911
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21387
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14543
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 514
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7182
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 905
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 79
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3640
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4302
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2639
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4204
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1867
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7332
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24716
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9638
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5768
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
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: 8644
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.351e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.24e-1

FS
type: SiteQuality
SIO_000300: 6.529e0

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.49e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.46e-1

DP
type: SiteQuality
SIO_000300: 1.903758e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000388348
ensembl transcript: ENST00000458280
gene symbol: STX16
hgvsc: ENST00000458280.1:c.-42-46C>T
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7182
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1911
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 301
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 86
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9551
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21387
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 905
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 191
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14543
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3640
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 514
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5768
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4302
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2639
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24716
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9638
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1867
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7332
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 84
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4204
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66684
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

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

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 6.38e-1

DP
type: SiteQuality
SIO_000300: 1.903758e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.46e-1

FS
type: SiteQuality
SIO_000300: 6.529e0

QD
type: SiteQuality
SIO_000300: 1.351e1

MQRankSum
type: SiteQuality
SIO_000300: -9.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000436667
ensembl transcript: ENST00000493301
gene symbol: STX16
hgvsc: ENST00000493301.1:c.6G>A
hgvsp: ENSP00000436667.1:p.Ala3Thr
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 1911
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3644
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14546
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 513
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7184
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9542
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 904
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21414
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1869
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 75
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7330
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5771
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2639
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9651
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4302
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24713
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4210
bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.143e1

VQSLOD
type: SiteQuality
SIO_000300: 5.49e-1

DP
type: SiteQuality
SIO_000300: 1.903943e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

FS
type: SiteQuality
SIO_000300: 3.72e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.19e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000432823
ensembl transcript: ENST00000483434
gene symbol: STX16
hgvsc: ENST00000483434.1:c.-30-42G>C
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 9542
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1911
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21414
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7184
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 47
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 904
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 513
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14546
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3644
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1869
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 75
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9651
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24713
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5771
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2639
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7330
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4302
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4210
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10384
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: 1.903943e6

FS
type: SiteQuality
SIO_000300: 3.72e0

VQSLOD
type: SiteQuality
SIO_000300: 5.49e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.143e1

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.19e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000432823
ensembl transcript: ENST00000483434
gene symbol: STX16
hgvsc: ENST00000483434.1:c.-30-41C>G
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 7184
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21415
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 904
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 513
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 14547
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9545
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 75
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3643
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1911
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4210
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2639
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4302
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5771
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9651
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24727
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7328
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
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: 8644
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.92e0

VQSLOD
type: SiteQuality
SIO_000300: -2.351e0

FS
type: SiteQuality
SIO_000300: 1.797e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.23e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.493e0

DP
type: SiteQuality
SIO_000300: 1.903936e6

MQ
type: SiteQuality
SIO_000300: 5.924e1

QD
type: SiteQuality
SIO_000300: 1.289e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000388348
ensembl transcript: ENST00000458280
gene symbol: STX16
hgvsc: ENST00000458280.1:c.-42-30_-42-28delTTG
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 513
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14549
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21423
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3643
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7186
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1912
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 903
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9561
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7327
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9654
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2638
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5769
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4304
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24754
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1871
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4210
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.25e1
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: 1
allele frequency: 1.499385252046661e-5
allele num: 66694
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.844e1

DP
type: SiteQuality
SIO_000300: 1.904221e6

VQSLOD
type: SiteQuality
SIO_000300: 2.75e0

FS
type: SiteQuality
SIO_000300: 8.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.899e1

Annotation
canonical: false
consequence: missense_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000354445
ensembl transcript: ENST00000361830
gene symbol: STX16
hgvsc: ENST00000361830.3:c.33G>C
hgvsp: ENSP00000354445.3:p.Leu11Phe
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 7187
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 513
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14551
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9565
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3643
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1911
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 903
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21431
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7327
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5769
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9655
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24769
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1872
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 4210
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4304
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2637
bin: 9.25e1
variant carriers: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 8644
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.934e1

VQSLOD
type: SiteQuality
SIO_000300: 4.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.54e-1

DP
type: SiteQuality
SIO_000300: 1.904448e6

MQRankSum
type: SiteQuality
SIO_000300: -7.58e-1

FS
type: SiteQuality
SIO_000300: 1.888e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.2e0

QD
type: SiteQuality
SIO_000300: 1.28e1

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000354445
ensembl transcript: ENST00000361830
gene symbol: STX16
hgvsc: ENST00000361830.3:c.42G>C
hgvsp: ENST00000361830.3:c.42G>C(p.%3D)
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 35
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 113
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9556
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 513
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7185
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 902
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21449
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3642
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14559
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1911
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4212
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9654
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4304
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2638
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5769
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7326
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24777
bin: 6.25e1
variant carriers: 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: 10398
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.904684e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

FS
type: SiteQuality
SIO_000300: 2.042e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.96e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.7e-1

QD
type: SiteQuality
SIO_000300: 1.384e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000352634
ensembl transcript: ENST00000359617
gene symbol: STX16
hgvsc: ENST00000359617.4:c.-93-16C>T
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 113
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14569
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7186
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1911
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9530
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 902
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 513
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 21463
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3641
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4211
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24746
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5773
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4306
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7327
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 1874
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2640
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9667
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.923446816695518e-4
allele num: 10398
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.146e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.04e-1

DP
type: SiteQuality
SIO_000300: 1.904932e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl transcript: ENST00000496117
gene symbol: STX16
hgvsc: ENST00000496117.1:n.95-13C>G
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 78
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7188
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3643
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9530
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1912
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 902
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 21463
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14566
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 513
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4306
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9668
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4213
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24732
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5775
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2640
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 23
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7324
bin: 9.75e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.25e-1

DP
type: SiteQuality
SIO_000300: 1.90494e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.64e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.953e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.242e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 5.848e0

VQSLOD
type: SiteQuality
SIO_000300: -1.324e-1

QD
type: SiteQuality
SIO_000300: 1.329e1

Annotation
canonical: true
consequence: synonymous_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000360183
ensembl transcript: ENST00000371141
gene symbol: STX16
hgvsc: ENST00000371141.4:c.60C>T
hgvsp: ENST00000371141.4:c.60C>T(p.%3D)
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 14571
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9525
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 300
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7186
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21469
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3640
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1911
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 514
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 78
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 902
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5773
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1874
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4216
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9657
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4312
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24759
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7323
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2642
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
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: 10394
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.904891e6

MQRankSum
type: SiteQuality
SIO_000300: -2.038e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.707e0

VQSLOD
type: SiteQuality
SIO_000300: -1.438e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
SIO_000300: 1.103e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.684e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.047e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl transcript: ENST00000490700
gene symbol: STX16
hgvsc: ENST00000490700.1:n.120-6C>T
variant of: http://identifiers.org/hgnc/11431

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

GenotypeDepth
all individuals: 1911
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7187
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14574
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9526
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 512
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 47
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3639
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21466
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 902
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 50
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5772
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9658
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2641
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24766
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4216
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7322
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4311
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1874
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 1.976e0

QD
type: SiteQuality
SIO_000300: 2.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e0

VQSLOD
type: SiteQuality
SIO_000300: -2.923e0

DP
type: SiteQuality
SIO_000300: 1.904827e6

MQ
type: SiteQuality
SIO_000300: 5.976e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl transcript: ENST00000490700
gene symbol: STX16
hgvsc: ENST00000490700.1:n.120-5G>A
variant of: http://identifiers.org/hgnc/11431

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000388348
ensembl transcript: ENST00000458280
gene symbol: STX16
hgvsc: ENST00000458280.1:c.-42-5G>A
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 9525
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1912
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14568
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 78
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 902
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3639
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 512
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7186
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21470
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 301
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 51
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24758
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4310
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7321
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4214
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 5771
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2640
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1874
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9661
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.746e0

DP
type: SiteQuality
SIO_000300: 1.904777e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

FS
type: SiteQuality
SIO_000300: 1.1506e1

MQRankSum
type: SiteQuality
SIO_000300: 1.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.6e-2

QD
type: SiteQuality
SIO_000300: 1.538e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000432823
ensembl transcript: ENST00000483434
gene symbol: STX16
hgvsc: ENST00000483434.1:c.-30-3C>A
variant of: http://identifiers.org/hgnc/11431

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124222
ensembl transcript: ENST00000496003
gene symbol: STX16
hgvsc: ENST00000496003.1:n.325C>A
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 1912
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9510
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14570
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 78
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 21478
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7186
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 512
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 902
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3638
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7321
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4216
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9664
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5771
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4311
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2640
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24736
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.313208420078649e-4
allele num: 8646
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.498e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.672e0

QD
type: SiteQuality
SIO_000300: 1.064e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.29e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

DP
type: SiteQuality
SIO_000300: 1.904844e6

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000434369
ensembl transcript: ENST00000467096
gene symbol: STX16
hgvsc: ENST00000467096.1:c.67C>T
hgvsp: ENST00000467096.1:c.67C>T(p.%3D)
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 14565
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21487
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3638
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1911
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 902
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7189
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 512
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9504
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 78
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4216
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9659
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2640
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7320
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1875
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24744
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5772
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4309
bin: 8.25e1
variant carriers: 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: 10398
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.332e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 8.02e0

DP
type: SiteQuality
SIO_000300: 1.904902e6

VQSLOD
type: SiteQuality
SIO_000300: -1.542e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124222
ensembl transcript: ENST00000490700
gene symbol: STX16
hgvsc: ENST00000490700.1:n.131G>T
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 14554
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9484
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 512
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7185
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1910
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 902
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21501
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3637
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9647
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4216
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5771
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7317
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24749
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4307
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2640
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998231043684226e-5
allele num: 66706
num of homozygotes: 0

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.02e-1

QD
type: SiteQuality
SIO_000300: 9.49e0

MQRankSum
type: SiteQuality
SIO_000300: 9.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 9.02e-1

DP
type: SiteQuality
SIO_000300: 1.904585e6

MQ
type: SiteQuality
SIO_000300: 5.956e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.583e0

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000416852
ensembl transcript: ENST00000412911
gene symbol: STX16
hgvsc: ENST00000412911.1:c.-31G>A
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 63
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9484
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 79
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 21501
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 902
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14554
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3637
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 32
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7185
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 512
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1910
bin: 4.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 9647
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24749
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7317
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2640
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4216
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5771
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4307
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 9.89e-1

FS
type: SiteQuality
SIO_000300: 9.02e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.956e1

VQSLOD
type: SiteQuality
SIO_000300: 5.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.583e0

QD
type: SiteQuality
SIO_000300: 9.49e0

DP
type: SiteQuality
SIO_000300: 1.904585e6

Annotation
canonical: false
consequence: splice_region_variant
consequence: 5_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000432823
ensembl transcript: ENST00000483434
gene symbol: STX16
hgvsc: ENST00000483434.1:c.-17A>C
variant of: http://identifiers.org/hgnc/11431

Annotation
canonical: false
consequence: splice_region_variant
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000416852
ensembl transcript: ENST00000412911
gene symbol: STX16
hgvsc: ENST00000412911.1:c.-29A>C
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 1910
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21497
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7185
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 298
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3636
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 14554
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 512
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9485
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 78
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 903
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 5770
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7315
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 23
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2641
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9648
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4216
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4306
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24740
bin: 6.25e1
variant carriers: 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: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.36e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

QD
type: SiteQuality
SIO_000300: 1.535e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

DP
type: SiteQuality
SIO_000300: 1.904282e6

VQSLOD
type: SiteQuality
SIO_000300: 2.84e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000434369
ensembl transcript: ENST00000467096
gene symbol: STX16
hgvsc: ENST00000467096.1:c.81+17C>T
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 77
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9444
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 298
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14544
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 42
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 101
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 511
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 903
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7171
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21472
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1908
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3635
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 97
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9620
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5763
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4301
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1873
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2639
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7305
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24622
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4211
bin: 7.25e1
variant carriers: 0

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

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

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

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

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e-1

DP
type: SiteQuality
SIO_000300: 1.902928e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.018e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

QD
type: SiteQuality
SIO_000300: 1.069e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.43e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.429999999999999e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000435118
ensembl transcript: ENST00000460655
gene symbol: STX16
hgvsc: ENST00000460655.1:c.-28+18C>G
variant of: http://identifiers.org/hgnc/11431

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

GenotypeDepth
all individuals: 14543
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1908
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7170
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 903
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21467
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9443
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3635
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 107
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 510
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 187
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2639
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7303
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4207
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9614
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5761
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4300
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24601
bin: 6.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
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: 16506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

DP
type: SiteQuality
SIO_000300: 1.902756e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.26e0

FS
type: SiteQuality
SIO_000300: 1.47e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

QD
type: SiteQuality
SIO_000300: 1.128e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000432823
ensembl transcript: ENST00000483434
gene symbol: STX16
hgvsc: ENST00000483434.1:c.-16+18C>T
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 107
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3635
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 299
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1908
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21467
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 903
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 100
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9443
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 45
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 187
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 510
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7170
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14543
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24601
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 104
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4300
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2639
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5761
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7303
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 9614
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4207
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.128e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: 8.6e-1

FS
type: SiteQuality
SIO_000300: 1.47e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.850000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.26e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -2.87e-1

DP
type: SiteQuality
SIO_000300: 1.902756e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000360173
ensembl transcript: ENST00000371132
gene symbol: STX16
hgvsc: ENST00000371132.4:c.81+20C>G
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21471
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 510
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3633
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7172
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 14532
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9455
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1908
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 904
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 298
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 187
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4201
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9621
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7297
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4296
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1873
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24666
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5761
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2638
bin: 9.25e1
variant carriers: 0

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

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

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

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

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

VQSLOD
type: SiteQuality
SIO_000300: -5.197000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

FS
type: SiteQuality
SIO_000300: 1.124e0

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 1.902669e6

QD
type: SiteQuality
SIO_000300: 5.05e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000416852
ensembl transcript: ENST00000412911
gene symbol: STX16
hgvsc: ENST00000412911.1:c.-28+25C>A
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 14512
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 43
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 134
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 38
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 189
bin: 6.75e1
variant carriers: 11

GenotypeDepth
all individuals: 1905
bin: 4.75e1
variant carriers: 12

GenotypeDepth
all individuals: 3627
bin: 4.25e1
variant carriers: 7

GenotypeDepth
all individuals: 904
bin: 5.25e1
variant carriers: 11

GenotypeDepth
all individuals: 513
bin: 5.75e1
variant carriers: 9

GenotypeDepth
all individuals: 108
bin: 1.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 9455
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 52
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21449
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 7164
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 9

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 4

GenotypeDepth
all individuals: 47
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 295
bin: 6.25e1
variant carriers: 3

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24637
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4293
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5747
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9607
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4191
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1868
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7310
bin: 9.75e1
variant carriers: 80

GenotypeQuality
all individuals: 2634
bin: 9.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 56
allele frequency: 8.39806844425782e-4
allele num: 66682
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 2.888503755054881e-4
allele num: 10386
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 17
allele frequency: 1.029928510844541e-3
allele num: 16506
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 3.538e0

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.086e0

DP
type: SiteQuality
SIO_000300: 1.90257e6

QD
type: SiteQuality
SIO_000300: 1.135e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000124222
ensembl transcript: ENST00000468590
gene symbol: STX16
hgvsc: ENST00000468590.1:n.16C>T
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 47
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 189
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7164
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 77
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 108
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 513
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 43
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 904
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 295
bin: 6.25e1
variant carriers: 4

GenotypeDepth
all individuals: 21449
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 38
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 14512
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9455
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3627
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1905
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4191
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2634
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5747
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4293
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1868
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 57
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7310
bin: 9.75e1
variant carriers: 9

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

GenotypeQuality
all individuals: 9607
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24637
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 9
allele frequency: 1.040943789035392e-3
allele num: 8646
num of homozygotes: 0

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

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

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

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.51e-1

DP
type: SiteQuality
SIO_000300: 1.90257e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 3.538e0

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.135e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.086e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.26e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl transcript: ENST00000490700
gene symbol: STX16
hgvsc: ENST00000490700.1:n.134+36A>T
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 3617
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7151
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9400
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1894
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 503
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14489
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 87
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21438
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 288
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 890
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 249
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 31
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 27
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4170
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9582
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4288
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1869
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5734
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2629
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24603
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7225
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
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: 1.500555205426008e-5
allele num: 66642
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.8e-2

DP
type: SiteQuality
SIO_000300: 1.896798e6

MQRankSum
type: SiteQuality
SIO_000300: -5.29e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.39e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.51e0

QD
type: SiteQuality
SIO_000300: 1.163e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.5e-1

MQ
type: SiteQuality
SIO_000300: 5.924e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl transcript: ENST00000496117
gene symbol: STX16
hgvsc: ENST00000496117.1:n.109+37C>A
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 501
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9384
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 284
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14480
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 288
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7147
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3612
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21407
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1896
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 180
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 160
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 890
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7220
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2627
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24519
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4282
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 102
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9562
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4164
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5728
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1865
bin: 8.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

QD
type: SiteQuality
SIO_000300: 1.391e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

FS
type: SiteQuality
SIO_000300: 2.079e0

VQSLOD
type: SiteQuality
SIO_000300: 7.56e-1

DP
type: SiteQuality
SIO_000300: 1.895687e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000434369
ensembl transcript: ENST00000467096
gene symbol: STX16
hgvsc: ENST00000467096.1:c.81+37C>G
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 14480
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 284
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 99
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1896
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 160
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 288
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 501
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 890
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 21407
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7147
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9384
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3612
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1865
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4282
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4164
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 60
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9562
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5728
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 102
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24519
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2627
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7220
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 224
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
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: 8640
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.895687e6

MQRankSum
type: SiteQuality
SIO_000300: 8.45e-1

FS
type: SiteQuality
SIO_000300: 2.079e0

QD
type: SiteQuality
SIO_000300: 1.391e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.03e0

VQSLOD
type: SiteQuality
SIO_000300: 7.56e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000437209
ensembl transcript: ENST00000476384
gene symbol: STX16
hgvsc: ENST00000476384.1:c.-134+42C>T
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 500
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1889
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 74
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 239
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 6.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 21335
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7139
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 370
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14423
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 889
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 288
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9343
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3607
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4147
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9523
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24386
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 4270
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2624
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7214
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 160
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1858
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5723
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 2.25e1
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.445e0

VQSLOD
type: SiteQuality
SIO_000300: -8.601e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

FS
type: SiteQuality
SIO_000300: 1.1053e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.892704e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

QD
type: SiteQuality
SIO_000300: 1.265e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000350723
ensembl transcript: ENST00000358029
gene symbol: STX16
hgvsc: ENST00000358029.4:c.132+8T>A
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 13985
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3586
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 837
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7054
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9425
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 934
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 500
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 887
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 290
bin: 6.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1879
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20555
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7195
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5636
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2608
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 454
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1843
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4080
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9196
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23248
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4223
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66494
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

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

South Asian
type: Population
allele count: 3
allele frequency: 1.820388349514563e-4
allele num: 16480
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

FS
type: SiteQuality
SIO_000300: 6.64e-1

DP
type: SiteQuality
SIO_000300: 1.872537e6

MQRankSum
type: SiteQuality
SIO_000300: 7.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.23e-1

QD
type: SiteQuality
SIO_000300: 1.134e1

VQSLOD
type: SiteQuality
SIO_000300: 6.45e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000416852
ensembl transcript: ENST00000412911
gene symbol: STX16
hgvsc: ENST00000412911.1:c.-28+65C>A
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 1195
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 250
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 887
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7011
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 500
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13738
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1877
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 73
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3579
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9573
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1197
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20046
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 288
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 109
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22342
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4204
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 634
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 456
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2599
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 808
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8999
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1832
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5549
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4031
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7180
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 273
bin: 4.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66448
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.214329083181542e-4
allele num: 16470
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.45e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.861653e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.05e-1

QD
type: SiteQuality
SIO_000300: 7.88e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000348229
ensembl transcript: ENST00000355957
gene symbol: STX16
hgvsc: ENST00000355957.5:c.81+66G>A
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 1184
bin: 1.75e1
variant carriers: 5

GenotypeDepth
all individuals: 9614
bin: 2.25e1
variant carriers: 23

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

GenotypeDepth
all individuals: 20011
bin: 2.75e1
variant carriers: 40

GenotypeDepth
all individuals: 1203
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 291
bin: 6.25e1
variant carriers: 10

GenotypeDepth
all individuals: 3604
bin: 4.25e1
variant carriers: 72

GenotypeDepth
all individuals: 80
bin: 7.75e1
variant carriers: 8

GenotypeDepth
all individuals: 13662
bin: 3.25e1
variant carriers: 66

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7007
bin: 3.75e1
variant carriers: 72

GenotypeDepth
all individuals: 508
bin: 5.75e1
variant carriers: 19

GenotypeDepth
all individuals: 73
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 7.25e1
variant carriers: 4

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 6.75e1
variant carriers: 13

GenotypeDepth
all individuals: 48
bin: 8.25e1
variant carriers: 5

GenotypeDepth
all individuals: 1891
bin: 4.75e1
variant carriers: 56

GenotypeDepth
all individuals: 892
bin: 5.25e1
variant carriers: 29

GenotypeQuality
all individuals: 468
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8946
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 250
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7482
bin: 9.75e1
variant carriers: 421

GenotypeQuality
all individuals: 336
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4006
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2570
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 5504
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 443
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22554
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 183
allele frequency: 2.75419902474264e-3
allele num: 66444
num of homozygotes: 1

African
type: Population
allele count: 4
allele frequency: 3.874467260751647e-4
allele num: 10324
num of homozygotes: 0

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

Other
type: Population
allele count: 6
allele frequency: 6.63716814159292e-3
allele num: 904
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.058770069675856e-4
allele num: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 18
allele frequency: 1.566579634464752e-3
allele num: 11490
num of homozygotes: 0

South Asian
type: Population
allele count: 214
allele frequency: 1.2988589463462e-2
allele num: 16476
num of homozygotes: 4

QD
type: SiteQuality
SIO_000300: 1.337e1

FS
type: SiteQuality
SIO_000300: 2.249e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.74e-2

DP
type: SiteQuality
SIO_000300: 1.863124e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000352634
ensembl transcript: ENST00000359617
gene symbol: STX16
hgvsc: ENST00000359617.4:c.-28+15G>T
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 1891
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1184
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 252
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 892
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 190
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 291
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3604
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7007
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13662
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 9614
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20011
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1203
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 41
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 508
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 443
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 624
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22554
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1821
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8946
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5504
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4006
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2570
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7482
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e-1

DP
type: SiteQuality
SIO_000300: 1.863124e6

QD
type: SiteQuality
SIO_000300: 1.337e1

FS
type: SiteQuality
SIO_000300: 2.249e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.74e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.89e-1

Annotation
canonical: true
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000254995
ensembl protein: ENSP00000457522
ensembl transcript: ENST00000530122
gene symbol: STX16-NPEPL1
hgvsc: ENST00000530122.1:c.132+20C>T
variant of: http://identifiers.org/hgnc/41993

GenotypeDepth
all individuals: 6931
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 873
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 265
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 284
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1420
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9741
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1856
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 497
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13486
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1521
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3545
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 106
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19724
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7126
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 777
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8911
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 429
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2566
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 346
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 526
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5505
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22298
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1823
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4004
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 274
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66434
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.071645415907711e-5
allele num: 16470
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.011e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 1.194e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.71e-1

DP
type: SiteQuality
SIO_000300: 1.850003e6

BaseQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

FS
type: SiteQuality
SIO_000300: 1.1112e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.71e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000354445
ensembl transcript: ENST00000361830
gene symbol: STX16
hgvsc: ENST00000361830.3:c.132+23C>A
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 267
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19507
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6920
bin: 3.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1497
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13408
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1689
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1856
bin: 4.75e1
variant carriers: 2

GenotypeDepth
all individuals: 3538
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 283
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 874
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 498
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9805
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8820
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2558
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 392
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5441
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7119
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 3943
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4137
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1809
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22359
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 2.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.482500435312555e-4
allele num: 11486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506069459923492e-5
allele num: 66398
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.964e1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: -1.15e-1

QD
type: SiteQuality
SIO_000300: 1.294e1

FS
type: SiteQuality
SIO_000300: 6.031e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 1.846336e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.92e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000437209
ensembl transcript: ENST00000476384
gene symbol: STX16
hgvsc: ENST00000476384.1:c.-134+74C>G
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 180
bin: 6.75e1
variant carriers: 2

GenotypeDepth
all individuals: 1856
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13408
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 874
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3538
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1497
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19507
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9805
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 283
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 498
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1689
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6920
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 105
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2558
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 847
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3943
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 373
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 710
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5441
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22359
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8820
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7119
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1809
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4137
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 392
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.515610791148833e-4
allele num: 6598
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.530347299617458e-5
allele num: 66398
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.074596039363382e-5
allele num: 16462
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.846336e6

QD
type: SiteQuality
SIO_000300: 1.294e1

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 6.031e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.4e0

MQRankSum
type: SiteQuality
SIO_000300: -1.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 2.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.8e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000416852
ensembl transcript: ENST00000412911
gene symbol: STX16
hgvsc: ENST00000412911.1:c.-28+80_-28+81delAC
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 497
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9815
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13311
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 178
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6898
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1580
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1848
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1851
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19385
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 283
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3528
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 873
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22037
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 996
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 782
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 909
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1809
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3929
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7106
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8778
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4128
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2550
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5428
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505933377507379e-5
allele num: 66404
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 9.95e-1

DP
type: SiteQuality
SIO_000300: 1.842169e6

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

QD
type: SiteQuality
SIO_000300: 3.31e1

MQ
type: SiteQuality
SIO_000300: 6.032e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.95e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000432823
ensembl transcript: ENST00000483434
gene symbol: STX16
hgvsc: ENST00000483434.1:c.-16+82G>C
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 497
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9621
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13018
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1823
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6851
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2716
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1844
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 282
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 284
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 872
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 18829
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3499
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 331
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8585
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1800
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7089
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 471
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2543
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4066
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5295
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21378
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3830
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506750241080039e-5
allele num: 66368
num of homozygotes: 0

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.194e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

FS
type: SiteQuality
SIO_000300: 9.379999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.035e1

DP
type: SiteQuality
SIO_000300: 1.828131e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: 9.2e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000124222
ensembl protein: ENSP00000354445
ensembl transcript: ENST00000361830
gene symbol: STX16
hgvsc: ENST00000361830.3:c.132+31G>T
variant of: http://identifiers.org/hgnc/11431

GenotypeDepth
all individuals: 6851
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2716
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 282
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9621
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 497
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13018
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 284
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 105
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 872
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3499
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1823
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18829
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1844
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2543
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3830
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 711
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1800
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21378
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1121
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 5295
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7089
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 331
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8585
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4066
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1132
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.704968944099378e-5
allele num: 10304
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506750241080039e-5
allele num: 66368
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.2e-1

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.194e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 9.379999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

QD
type: SiteQuality
SIO_000300: 1.035e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.79e-1

DP
type: SiteQuality
SIO_000300: 1.828131e6