4-83770069-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770069
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770069
    reference: chr 4
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2390A>G
  hgvsp: ENSP00000424635.1:p.His797Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1239A>G
  hgvsp: ENSP00000426562.1:p.His414Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2273A>G
  hgvsp: ENSP00000421464.1:p.His758Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2390A>G
  hgvsp: ENSP00000347329.2:p.His797Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2390A>G
  hgvsp: ENSP00000407944.1:p.His797Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2273A>G
  hgvsp: ENSP00000325087.5:p.His758Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2390A>G
  hgvsp: ENSP00000378721.2:p.His797Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2273A>G
  hgvsp: ENSP00000426886.1:p.His758Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2390A>G
  hgvsp: ENSP00000426569.1:p.His797Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1589A>G
  hgvsp: ENSP00000264405.5:p.His530Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2273A>G
  hgvsp: ENSP00000424451.1:p.His758Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2390A>G
  hgvsp: ENSP00000309070.7:p.His797Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2273A>G
  hgvsp: ENSP00000337602.5:p.His758Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2390A>G
  hgvsp: ENSP00000400926.1:p.His797Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2375A>G
  hgvsp: ENSP00000408027.2:p.His792Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2390A>G
  hgvsp: ENSP00000421633.1:p.His797Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2390A>G
  hgvsp: ENSP00000425999.1:p.His797Arg
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.His797Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

4-83770070-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770070
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770070
    reference: chr 4
allele count: 10
allele frequency: 8.2387253044209e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1238C>T
  hgvsp: ENSP00000426562.1:p.His414Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2389C>T
  hgvsp: ENSP00000425999.1:p.His797Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1588C>T
  hgvsp: ENSP00000264405.5:p.His530Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2272C>T
  hgvsp: ENSP00000426886.1:p.His758Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2389C>T
  hgvsp: ENSP00000400926.1:p.His797Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2272C>T
  hgvsp: ENSP00000424451.1:p.His758Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2389C>T
  hgvsp: ENSP00000309070.7:p.His797Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2389C>T
  hgvsp: ENSP00000378721.2:p.His797Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2272C>T
  hgvsp: ENSP00000325087.5:p.His758Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2272C>T
  hgvsp: ENSP00000337602.5:p.His758Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2389C>T
  hgvsp: ENSP00000421633.1:p.His797Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2389C>T
  hgvsp: ENSP00000424635.1:p.His797Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2389C>T
  hgvsp: ENSP00000407944.1:p.His797Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2389C>T
  hgvsp: ENSP00000347329.2:p.His797Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2374C>T
  hgvsp: ENSP00000408027.2:p.His792Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2272C>T
  hgvsp: ENSP00000421464.1:p.His758Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2389C>T
  hgvsp: ENSP00000426569.1:p.His797Tyr
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.His797Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP

4-83770077-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770077
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770077
    reference: chr 4
allele count: 3
allele frequency: 2.471902705909495e-5
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2382A>G
  hgvsp: ENST00000311785.7:c.2382A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2382A>G
  hgvsp: ENST00000508502.1:c.2382A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1581A>G
  hgvsp: ENST00000264405.5:c.1581A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2382A>G
  hgvsp: ENST00000355196.2:c.2382A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2265A>G
  hgvsp: ENST00000348405.4:c.2265A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2382A>G
  hgvsp: ENST00000505472.1:c.2382A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2265A>G
  hgvsp: ENST00000513858.1:c.2265A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2382A>G
  hgvsp: ENST00000508479.1:c.2382A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2367A>G
  hgvsp: ENST00000443462.2:c.2367A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2382A>G
  hgvsp: ENST00000395310.2:c.2382A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1231A>G
  hgvsp: ENST00000507828.1:c.1231A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2265A>G
  hgvsp: ENST00000505984.1:c.2265A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2382A>G
  hgvsp: ENST00000509142.1:c.2382A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2382A>G
  hgvsp: ENST00000432794.1:c.2382A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2265A>G
  hgvsp: ENST00000500777.2:c.2265A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2382A>G
  hgvsp: ENST00000448323.1:c.2382A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2265A>G
  hgvsp: ENST00000326950.5:c.2265A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val794Val
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

4-83770081-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770081
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770081
    reference: chr 4
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2261C>A
  hgvsp: ENSP00000424451.1:p.Pro754His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1227C>A
  hgvsp: ENSP00000426562.1:p.Pro410His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2261C>A
  hgvsp: ENSP00000337602.5:p.Pro754His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2378C>A
  hgvsp: ENSP00000309070.7:p.Pro793His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1577C>A
  hgvsp: ENSP00000264405.5:p.Pro526His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2261C>A
  hgvsp: ENSP00000325087.5:p.Pro754His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2261C>A
  hgvsp: ENSP00000421464.1:p.Pro754His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2363C>A
  hgvsp: ENSP00000408027.2:p.Pro788His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2378C>A
  hgvsp: ENSP00000347329.2:p.Pro793His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2378C>A
  hgvsp: ENSP00000421633.1:p.Pro793His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2378C>A
  hgvsp: ENSP00000407944.1:p.Pro793His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2378C>A
  hgvsp: ENSP00000425999.1:p.Pro793His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2378C>A
  hgvsp: ENSP00000426569.1:p.Pro793His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2378C>A
  hgvsp: ENSP00000378721.2:p.Pro793His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2261C>A
  hgvsp: ENSP00000426886.1:p.Pro754His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2378C>A
  hgvsp: ENSP00000424635.1:p.Pro793His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2378C>A
  hgvsp: ENSP00000400926.1:p.Pro793His
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro793His
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

4-83770083-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770083
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770083
    reference: chr 4
allele count: 1
allele frequency: 8.241441263248117e-6
allele num: 121338
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2376G>A
  hgvsp: ENST00000432794.1:c.2376G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2376G>A
  hgvsp: ENST00000508502.1:c.2376G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2376G>A
  hgvsp: ENST00000505472.1:c.2376G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2376G>A
  hgvsp: ENST00000311785.7:c.2376G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2259G>A
  hgvsp: ENST00000348405.4:c.2259G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2376G>A
  hgvsp: ENST00000448323.1:c.2376G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1575G>A
  hgvsp: ENST00000264405.5:c.1575G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2259G>A
  hgvsp: ENST00000500777.2:c.2259G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2376G>A
  hgvsp: ENST00000509142.1:c.2376G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2259G>A
  hgvsp: ENST00000505984.1:c.2259G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2361G>A
  hgvsp: ENST00000443462.2:c.2361G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2376G>A
  hgvsp: ENST00000508479.1:c.2376G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2259G>A
  hgvsp: ENST00000513858.1:c.2259G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1225G>A
  hgvsp: ENST00000507828.1:c.1225G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2259G>A
  hgvsp: ENST00000326950.5:c.2259G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2376G>A
  hgvsp: ENST00000355196.2:c.2376G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2376G>A
  hgvsp: ENST00000395310.2:c.2376G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu792Glu
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

4-83770089-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770089
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770089
    reference: chr 4
allele count: 12
allele frequency: 9.892012200148381e-5
allele num: 121310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1569A>G
  hgvsp: ENST00000264405.5:c.1569A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2370A>G
  hgvsp: ENST00000432794.1:c.2370A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2370A>G
  hgvsp: ENST00000505472.1:c.2370A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2370A>G
  hgvsp: ENST00000508502.1:c.2370A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2253A>G
  hgvsp: ENST00000505984.1:c.2253A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2370A>G
  hgvsp: ENST00000508479.1:c.2370A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2370A>G
  hgvsp: ENST00000448323.1:c.2370A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2253A>G
  hgvsp: ENST00000513858.1:c.2253A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1219A>G
  hgvsp: ENST00000507828.1:c.1219A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2355A>G
  hgvsp: ENST00000443462.2:c.2355A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2370A>G
  hgvsp: ENST00000395310.2:c.2370A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2370A>G
  hgvsp: ENST00000509142.1:c.2370A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2253A>G
  hgvsp: ENST00000500777.2:c.2253A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2253A>G
  hgvsp: ENST00000348405.4:c.2253A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2253A>G
  hgvsp: ENST00000326950.5:c.2253A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2370A>G
  hgvsp: ENST00000355196.2:c.2370A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2370A>G
  hgvsp: ENST00000311785.7:c.2370A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln790Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/4-83770096-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770096
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770096
    reference: chr 4
allele count: 1
allele frequency: 8.248239000973292e-6
allele num: 121238
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2246G>T
  hgvsp: ENSP00000424451.1:p.Arg749Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2246G>T
  hgvsp: ENSP00000337602.5:p.Arg749Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2363G>T
  hgvsp: ENSP00000407944.1:p.Arg788Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2363G>T
  hgvsp: ENSP00000378721.2:p.Arg788Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2246G>T
  hgvsp: ENSP00000426886.1:p.Arg749Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1212G>T
  hgvsp: ENSP00000426562.1:p.Arg405Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2363G>T
  hgvsp: ENSP00000424635.1:p.Arg788Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2363G>T
  hgvsp: ENSP00000421633.1:p.Arg788Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2348G>T
  hgvsp: ENSP00000408027.2:p.Arg783Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2363G>T
  hgvsp: ENSP00000309070.7:p.Arg788Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2363G>T
  hgvsp: ENSP00000400926.1:p.Arg788Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1562G>T
  hgvsp: ENSP00000264405.5:p.Arg521Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2246G>T
  hgvsp: ENSP00000421464.1:p.Arg749Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2363G>T
  hgvsp: ENSP00000426569.1:p.Arg788Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2246G>T
  hgvsp: ENSP00000325087.5:p.Arg749Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2363G>T
  hgvsp: ENSP00000347329.2:p.Arg788Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2363G>T
  hgvsp: ENSP00000425999.1:p.Arg788Ile
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3327
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg788Ile
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

4-83770098-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770098
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770098
    reference: chr 4
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2244T>C
  hgvsp: ENST00000505984.1:c.2244T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2244T>C
  hgvsp: ENST00000348405.4:c.2244T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2361T>C
  hgvsp: ENST00000432794.1:c.2361T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2361T>C
  hgvsp: ENST00000505472.1:c.2361T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2361T>C
  hgvsp: ENST00000509142.1:c.2361T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2244T>C
  hgvsp: ENST00000513858.1:c.2244T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2361T>C
  hgvsp: ENST00000311785.7:c.2361T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2244T>C
  hgvsp: ENST00000500777.2:c.2244T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2361T>C
  hgvsp: ENST00000508479.1:c.2361T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2361T>C
  hgvsp: ENST00000508502.1:c.2361T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2361T>C
  hgvsp: ENST00000395310.2:c.2361T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1560T>C
  hgvsp: ENST00000264405.5:c.1560T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2244T>C
  hgvsp: ENST00000326950.5:c.2244T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2361T>C
  hgvsp: ENST00000448323.1:c.2361T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2361T>C
  hgvsp: ENST00000355196.2:c.2361T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2346T>C
  hgvsp: ENST00000443462.2:c.2346T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1210T>C
  hgvsp: ENST00000507828.1:c.1210T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3328
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys787Cys
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: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

4-83770100-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770100
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770100
    reference: chr 4
allele count: 2
allele frequency: 1.650655310158133e-5
allele num: 121164
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2359T>C
  hgvsp: ENSP00000400926.1:p.Cys787Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2359T>C
  hgvsp: ENSP00000424635.1:p.Cys787Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2242T>C
  hgvsp: ENSP00000421464.1:p.Cys748Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1558T>C
  hgvsp: ENSP00000264405.5:p.Cys520Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1208T>C
  hgvsp: ENSP00000426562.1:p.Cys404Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2359T>C
  hgvsp: ENSP00000309070.7:p.Cys787Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2359T>C
  hgvsp: ENSP00000421633.1:p.Cys787Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2359T>C
  hgvsp: ENSP00000426569.1:p.Cys787Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2242T>C
  hgvsp: ENSP00000426886.1:p.Cys748Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2242T>C
  hgvsp: ENSP00000337602.5:p.Cys748Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2242T>C
  hgvsp: ENSP00000424451.1:p.Cys748Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2359T>C
  hgvsp: ENSP00000425999.1:p.Cys787Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2359T>C
  hgvsp: ENSP00000347329.2:p.Cys787Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2359T>C
  hgvsp: ENSP00000378721.2:p.Cys787Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2359T>C
  hgvsp: ENSP00000407944.1:p.Cys787Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2344T>C
  hgvsp: ENSP00000408027.2:p.Cys782Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2242T>C
  hgvsp: ENSP00000325087.5:p.Cys748Arg
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys787Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

4-83770107-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770107
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770107
    reference: chr 4
allele count: 1
allele frequency: 8.269246671628215e-6
allele num: 120930
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1551C>T
  hgvsp: ENST00000264405.5:c.1551C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2352C>T
  hgvsp: ENST00000508502.1:c.2352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2352C>T
  hgvsp: ENST00000508479.1:c.2352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2352C>T
  hgvsp: ENST00000432794.1:c.2352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1201C>T
  hgvsp: ENST00000507828.1:c.1201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2235C>T
  hgvsp: ENST00000505984.1:c.2235C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2235C>T
  hgvsp: ENST00000326950.5:c.2235C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2352C>T
  hgvsp: ENST00000509142.1:c.2352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2352C>T
  hgvsp: ENST00000448323.1:c.2352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2235C>T
  hgvsp: ENST00000348405.4:c.2235C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2235C>T
  hgvsp: ENST00000513858.1:c.2235C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2337C>T
  hgvsp: ENST00000443462.2:c.2337C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2235C>T
  hgvsp: ENST00000500777.2:c.2235C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2352C>T
  hgvsp: ENST00000505472.1:c.2352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2352C>T
  hgvsp: ENST00000395310.2:c.2352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2352C>T
  hgvsp: ENST00000311785.7:c.2352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2352C>T
  hgvsp: ENST00000355196.2:c.2352C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14625
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp784Asp
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum

4-83770111-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770111
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770111
    reference: chr 4
allele count: 9
allele frequency: 7.455268389662028e-5
allele num: 120720
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2231G>A
  hgvsp: ENSP00000424451.1:p.Arg744His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2348G>A
  hgvsp: ENSP00000426569.1:p.Arg783His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2348G>A
  hgvsp: ENSP00000407944.1:p.Arg783His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2231G>A
  hgvsp: ENSP00000337602.5:p.Arg744His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2231G>A
  hgvsp: ENSP00000421464.1:p.Arg744His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2348G>A
  hgvsp: ENSP00000347329.2:p.Arg783His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2333G>A
  hgvsp: ENSP00000408027.2:p.Arg778His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2348G>A
  hgvsp: ENSP00000425999.1:p.Arg783His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2348G>A
  hgvsp: ENSP00000424635.1:p.Arg783His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2348G>A
  hgvsp: ENSP00000378721.2:p.Arg783His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2348G>A
  hgvsp: ENSP00000309070.7:p.Arg783His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2348G>A
  hgvsp: ENSP00000421633.1:p.Arg783His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2348G>A
  hgvsp: ENSP00000400926.1:p.Arg783His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1547G>A
  hgvsp: ENSP00000264405.5:p.Arg516His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2231G>A
  hgvsp: ENSP00000426886.1:p.Arg744His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1197G>A
  hgvsp: ENSP00000426562.1:p.Arg400His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2231G>A
  hgvsp: ENSP00000325087.5:p.Arg744His
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg783His
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

4-83770112-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770112
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770112
    reference: chr 4
allele count: 1
allele frequency: 8.28953694646617e-6
allele num: 120634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1196C>T
  hgvsp: ENSP00000426562.1:p.Arg400Cys
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2230C>T
  hgvsp: ENSP00000424451.1:p.Arg744Cys
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2230C>T
  hgvsp: ENSP00000426886.1:p.Arg744Cys
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2347C>T
  hgvsp: ENSP00000407944.1:p.Arg783Cys
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2332C>T
  hgvsp: ENSP00000408027.2:p.Arg778Cys
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2230C>T
  hgvsp: ENSP00000337602.5:p.Arg744Cys
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2347C>T
  hgvsp: ENSP00000421633.1:p.Arg783Cys
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1546C>T
  hgvsp: ENSP00000264405.5:p.Arg516Cys
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2347C>T
  hgvsp: ENSP00000347329.2:p.Arg783Cys
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2347C>T
  hgvsp: ENSP00000378721.2:p.Arg783Cys
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2347C>T
  hgvsp: ENSP00000425999.1:p.Arg783Cys
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2230C>T
  hgvsp: ENSP00000421464.1:p.Arg744Cys
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2347C>T
  hgvsp: ENSP00000309070.7:p.Arg783Cys
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2347C>T
  hgvsp: ENSP00000426569.1:p.Arg783Cys
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2230C>T
  hgvsp: ENSP00000325087.5:p.Arg744Cys
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2347C>T
  hgvsp: ENSP00000400926.1:p.Arg783Cys
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2347C>T
  hgvsp: ENSP00000424635.1:p.Arg783Cys
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8072
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3329
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg783Cys
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ

4-83770120-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770120
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770120
    reference: chr 4
allele count: 1
allele frequency: 8.311170212765958e-6
allele num: 120320
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2339T>C
  hgvsp: ENSP00000347329.2:p.Met780Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2339T>C
  hgvsp: ENSP00000378721.2:p.Met780Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2324T>C
  hgvsp: ENSP00000408027.2:p.Met775Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2339T>C
  hgvsp: ENSP00000425999.1:p.Met780Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2339T>C
  hgvsp: ENSP00000421633.1:p.Met780Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2339T>C
  hgvsp: ENSP00000426569.1:p.Met780Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2339T>C
  hgvsp: ENSP00000424635.1:p.Met780Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2339T>C
  hgvsp: ENSP00000407944.1:p.Met780Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2222T>C
  hgvsp: ENSP00000424451.1:p.Met741Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1538T>C
  hgvsp: ENSP00000264405.5:p.Met513Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2222T>C
  hgvsp: ENSP00000421464.1:p.Met741Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2222T>C
  hgvsp: ENSP00000337602.5:p.Met741Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2222T>C
  hgvsp: ENSP00000426886.1:p.Met741Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2339T>C
  hgvsp: ENSP00000309070.7:p.Met780Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2222T>C
  hgvsp: ENSP00000325087.5:p.Met741Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2339T>C
  hgvsp: ENSP00000400926.1:p.Met780Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1188T>C
  hgvsp: ENSP00000426562.1:p.Met397Thr
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met780Thr
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

4-83770127-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770127
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770127
    reference: chr 4
allele count: 2
allele frequency: 1.667722891164404e-5
allele num: 119924
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2215A>T
  hgvsp: ENSP00000424451.1:p.Asn739Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2332A>T
  hgvsp: ENSP00000347329.2:p.Asn778Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1531A>T
  hgvsp: ENSP00000264405.5:p.Asn511Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2215A>T
  hgvsp: ENSP00000325087.5:p.Asn739Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2332A>T
  hgvsp: ENSP00000309070.7:p.Asn778Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2332A>T
  hgvsp: ENSP00000378721.2:p.Asn778Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2215A>T
  hgvsp: ENSP00000426886.1:p.Asn739Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2215A>T
  hgvsp: ENSP00000421464.1:p.Asn739Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2317A>T
  hgvsp: ENSP00000408027.2:p.Asn773Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2332A>T
  hgvsp: ENSP00000407944.1:p.Asn778Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2215A>T
  hgvsp: ENSP00000337602.5:p.Asn739Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2332A>T
  hgvsp: ENSP00000421633.1:p.Asn778Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2332A>T
  hgvsp: ENSP00000425999.1:p.Asn778Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1181A>T
  hgvsp: ENSP00000426562.1:p.Asn395Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2332A>T
  hgvsp: ENSP00000400926.1:p.Asn778Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2332A>T
  hgvsp: ENSP00000424635.1:p.Asn778Tyr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2332A>T
  hgvsp: ENSP00000426569.1:p.Asn778Tyr
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn778Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

4-83770141-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770141
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770141
    reference: chr 4
allele count: 1
allele frequency: 8.382229673093043e-6
allele num: 119300
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2329-11A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2329-11A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2212-11A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2329-11A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2212-11A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1178-11A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2212-11A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2329-11A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2329-11A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2212-11A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2212-11A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2329-11A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2329-11A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1528-11A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2329-11A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2329-11A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2314-11A>G
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7951
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

4-83770143-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770143
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770143
    reference: chr 4
allele count: 1
allele frequency: 8.388698745050668e-6
allele num: 119208
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2329-13C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2329-13C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2329-13C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2314-13C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1528-13C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2212-13C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2212-13C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1178-13C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2329-13C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2212-13C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2329-13C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2329-13C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2329-13C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2329-13C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2212-13C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2212-13C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2329-13C>T
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2274
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25364
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/4-83770150-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770150
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770150
    reference: chr 4
allele count: 1
allele frequency: 8.413684015683106e-6
allele num: 118854
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2329-20G>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2212-20G>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2212-20G>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2329-20G>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1178-20G>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2329-20G>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2329-20G>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1528-20G>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2329-20G>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2212-20G>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2329-20G>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2212-20G>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2329-20G>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2329-20G>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2314-20G>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2329-20G>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2212-20G>T
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1780
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

4-83770150-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770150
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770150
    reference: chr 4
allele count: 1
allele frequency: 8.413684015683106e-6
allele num: 118854
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2329-20G>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1528-20G>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2329-20G>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2329-20G>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1178-20G>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2329-20G>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2329-20G>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2212-20G>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2329-20G>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2212-20G>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2212-20G>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2329-20G>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2212-20G>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2314-20G>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2329-20G>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2329-20G>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2212-20G>C
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24884
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

4-83770150-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770150
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770150
    reference: chr 4
allele count: 1
allele frequency: 8.413684015683106e-6
allele num: 118854
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2329-20G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2329-20G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1178-20G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2329-20G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2212-20G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2212-20G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2329-20G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2329-20G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2329-20G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2212-20G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1528-20G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2329-20G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2212-20G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2212-20G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2329-20G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2329-20G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2314-20G>A
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum

4-83770155-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770155
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770155
    reference: chr 4
allele count: 23
allele frequency: 1.938834002090569e-4
allele num: 118628
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2329-25C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2212-25C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2212-25C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2329-25C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2314-25C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2329-25C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2212-25C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2212-25C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2329-25C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1528-25C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1178-25C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2329-25C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2329-25C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2212-25C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2329-25C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2329-25C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2329-25C>G
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1781
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1110
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-83770160-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770160
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770160
    reference: chr 4
allele count: 2
allele frequency: 1.689560207477993e-5
allele num: 118374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2314-30A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2329-30A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2329-30A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1528-30A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2329-30A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1178-30A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2329-30A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2212-30A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2212-30A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2329-30A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2329-30A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2212-30A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2212-30A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2212-30A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2329-30A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2329-30A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2329-30A>G
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 724
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7909
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

4-83770161-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770161
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770161
    reference: chr 4
allele count: 1
allele frequency: 8.450085345861994e-6
allele num: 118342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1178-31A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2212-31A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2329-31A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2329-31A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2329-31A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1528-31A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2329-31A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2212-31A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2314-31A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2329-31A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2329-31A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2212-31A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2329-31A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2329-31A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2212-31A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2329-31A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2212-31A>G
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7911
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

4-83770162-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770162
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770162
    reference: chr 4
allele count: 19
allele frequency: 1.606303472997193e-4
allele num: 118284
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2212-32C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2329-32C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2329-32C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2212-32C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2329-32C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2212-32C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1528-32C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2329-32C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1178-32C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2329-32C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2329-32C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2314-32C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2212-32C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2329-32C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2329-32C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2329-32C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2212-32C>G
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24347
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

4-83770164-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770164
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770164
    reference: chr 4
allele count: 1
allele frequency: 8.458376330079678e-6
allele num: 118226
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2329-34C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2212-34C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2212-34C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2329-34C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2329-34C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2329-34C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2212-34C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2212-34C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2329-34C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1528-34C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2329-34C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2329-34C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2212-34C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2329-34C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2329-34C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2314-34C>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1178-34C>G
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24285
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3322
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

4-83770171-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770171
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770171
    reference: chr 4
allele count: 1
allele frequency: 8.506873553831496e-6
allele num: 117552
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2329-41G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2212-41G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2329-41G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2329-41G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2212-41G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2212-41G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1178-41G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2329-41G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2212-41G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2329-41G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2212-41G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1528-41G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2329-41G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2314-41G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2329-41G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2329-41G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2329-41G>A
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13378
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1792
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2765
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

4-83770178-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83770178
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83770178
    reference: chr 4
allele count: 2
allele frequency: 1.717268855612035e-5
allele num: 116464
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2329-48T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1528-48T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2329-48T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2329-48T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2329-48T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2329-48T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1178-48T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2329-48T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2329-48T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2329-48T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2329-48T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2212-48T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2212-48T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2212-48T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2212-48T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2212-48T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2314-48T>C
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2006
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

4-83772539-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772539
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772539
    reference: chr 4
allele count: 2
allele frequency: 1.744165765514354e-5
allele num: 114668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2211+45C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2328+45C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2328+45C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2211+45C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2328+45C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2211+45C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2328+45C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2211+45C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2328+45C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2328+45C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2313+45C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1177+45C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2328+45C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2211+45C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2328+45C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1527+45C>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2328+45C>T
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3539
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

4-83772541-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772541
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772541
    reference: chr 4
allele count: 3
allele frequency: 2.616750693438934e-5
allele num: 114646
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2328+43G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2328+43G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1177+43G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2328+43G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2211+43G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2211+43G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2211+43G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2211+43G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2328+43G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1527+43G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2328+43G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2328+43G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2211+43G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2328+43G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2328+43G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2313+43G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2328+43G>A
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

4-83772544-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772544
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772544
    reference: chr 4
allele count: 1
allele frequency: 8.699737267934509e-6
allele num: 114946
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2328+40T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2328+40T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2211+40T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2211+40T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2211+40T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1177+40T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2328+40T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2211+40T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2328+40T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2328+40T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2328+40T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2328+40T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2328+40T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2328+40T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1527+40T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2211+40T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2313+40T>A
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21663
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum

4-83772551-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772551
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772551
    reference: chr 4
allele count: 2
allele frequency: 1.734876216581947e-5
allele num: 115282
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2328+33A>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2328+33A>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1527+33A>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2328+33A>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2211+33A>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2211+33A>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2328+33A>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2211+33A>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2328+33A>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2328+33A>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1177+33A>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2211+33A>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2328+33A>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2211+33A>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2313+33A>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2328+33A>T
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2328+33A>T
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2999
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

4-83772561-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772561
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772561
    reference: chr 4
allele count: 1
allele frequency: 8.635429439906046e-6
allele num: 115802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2328+23G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1527+23G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2328+23G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2328+23G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2328+23G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1177+23G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2313+23G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2328+23G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2211+23G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2328+23G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2211+23G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2211+23G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2328+23G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2211+23G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2328+23G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2211+23G>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2328+23G>A
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

4-83772563-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772563
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772563
    reference: chr 4
allele count: 1
allele frequency: 8.614303189015041e-6
allele num: 116086
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2211+21T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2328+21T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2328+21T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2211+21T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2328+21T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1527+21T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2328+21T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2211+21T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2328+21T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2328+21T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2211+21T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2328+21T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2211+21T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2313+21T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2328+21T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1177+21T>C
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2328+21T>C
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6945
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

4-83772567-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772567
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772567
    reference: chr 4
allele count: 1
allele frequency: 8.591951060246761e-6
allele num: 116388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2211+17A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2328+17A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1527+17A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2211+17A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2211+17A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2328+17A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2328+17A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2211+17A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2211+17A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2313+17A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2328+17A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2328+17A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1177+17A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2328+17A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2328+17A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2328+17A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2328+17A>G
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6955
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

4-83772578-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772578
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772578
    reference: chr 4
allele count: 1
allele frequency: 8.483347189467077e-6
allele num: 117878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2211+6T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2328+6T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1527+6T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2328+6T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1177+6T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2211+6T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2328+6T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2328+6T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2328+6T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2211+6T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2328+6T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2328+6T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2211+6T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2328+6T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2328+6T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2211+6T>A
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2313+6T>A
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1089
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22018
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: c.2328+6T>A
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-83772580-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772580
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772580
    reference: chr 4
allele count: 1
allele frequency: 8.465823470648991e-6
allele num: 118122
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2328+4A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2328+4A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2211+4A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2211+4A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2328+4A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1527+4A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2328+4A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2313+4A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2328+4A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1177+4A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2211+4A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2328+4A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2328+4A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2328+4A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2328+4A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2211+4A>G
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2211+4A>G
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1679
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2328+4A>G
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

4-83772592-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772592
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772592
    reference: chr 4
allele count: 1
allele frequency: 8.368200836820084e-6
allele num: 119500
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2305A>G
  hgvsp: ENSP00000408027.2:p.Thr769Ala
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2203A>G
  hgvsp: ENSP00000337602.5:p.Thr735Ala
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2320A>G
  hgvsp: ENSP00000424635.1:p.Thr774Ala
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1519A>G
  hgvsp: ENSP00000264405.5:p.Thr507Ala
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2203A>G
  hgvsp: ENSP00000426886.1:p.Thr735Ala
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2203A>G
  hgvsp: ENSP00000325087.5:p.Thr735Ala
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2320A>G
  hgvsp: ENSP00000378721.2:p.Thr774Ala
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2203A>G
  hgvsp: ENSP00000421464.1:p.Thr735Ala
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2320A>G
  hgvsp: ENSP00000421633.1:p.Thr774Ala
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2320A>G
  hgvsp: ENSP00000347329.2:p.Thr774Ala
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1169A>G
  hgvsp: ENSP00000426562.1:p.Thr391Ala
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2203A>G
  hgvsp: ENSP00000424451.1:p.Thr735Ala
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2320A>G
  hgvsp: ENSP00000426569.1:p.Thr774Ala
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2320A>G
  hgvsp: ENSP00000400926.1:p.Thr774Ala
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2320A>G
  hgvsp: ENSP00000309070.7:p.Thr774Ala
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2320A>G
  hgvsp: ENSP00000425999.1:p.Thr774Ala
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2320A>G
  hgvsp: ENSP00000407944.1:p.Thr774Ala
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1682
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr774Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

4-83772594-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772594
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772594
    reference: chr 4
allele count: 2
allele frequency: 1.671011296036361e-5
allele num: 119688
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2201A>G
  hgvsp: ENSP00000424451.1:p.Asn734Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2318A>G
  hgvsp: ENSP00000425999.1:p.Asn773Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1517A>G
  hgvsp: ENSP00000264405.5:p.Asn506Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2318A>G
  hgvsp: ENSP00000309070.7:p.Asn773Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2318A>G
  hgvsp: ENSP00000421633.1:p.Asn773Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2318A>G
  hgvsp: ENSP00000424635.1:p.Asn773Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2318A>G
  hgvsp: ENSP00000407944.1:p.Asn773Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2201A>G
  hgvsp: ENSP00000421464.1:p.Asn734Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2318A>G
  hgvsp: ENSP00000347329.2:p.Asn773Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2201A>G
  hgvsp: ENSP00000426886.1:p.Asn734Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2318A>G
  hgvsp: ENSP00000400926.1:p.Asn773Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2201A>G
  hgvsp: ENSP00000325087.5:p.Asn734Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2303A>G
  hgvsp: ENSP00000408027.2:p.Asn768Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2318A>G
  hgvsp: ENSP00000426569.1:p.Asn773Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2318A>G
  hgvsp: ENSP00000378721.2:p.Asn773Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2201A>G
  hgvsp: ENSP00000337602.5:p.Asn734Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1167A>G
  hgvsp: ENSP00000426562.1:p.Asn390Ser
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Asn773Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

4-83772600-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772600
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772600
    reference: chr 4
allele count: 1
allele frequency: 8.322375538873816e-6
allele num: 120158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2312C>G
  hgvsp: ENSP00000407944.1:p.Pro771Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2312C>G
  hgvsp: ENSP00000378721.2:p.Pro771Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2195C>G
  hgvsp: ENSP00000426886.1:p.Pro732Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2312C>G
  hgvsp: ENSP00000424635.1:p.Pro771Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2312C>G
  hgvsp: ENSP00000421633.1:p.Pro771Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2195C>G
  hgvsp: ENSP00000421464.1:p.Pro732Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2297C>G
  hgvsp: ENSP00000408027.2:p.Pro766Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1161C>G
  hgvsp: ENSP00000426562.1:p.Pro388Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2195C>G
  hgvsp: ENSP00000424451.1:p.Pro732Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1511C>G
  hgvsp: ENSP00000264405.5:p.Pro504Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2312C>G
  hgvsp: ENSP00000425999.1:p.Pro771Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2312C>G
  hgvsp: ENSP00000309070.7:p.Pro771Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2195C>G
  hgvsp: ENSP00000325087.5:p.Pro732Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2195C>G
  hgvsp: ENSP00000337602.5:p.Pro732Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2312C>G
  hgvsp: ENSP00000400926.1:p.Pro771Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2312C>G
  hgvsp: ENSP00000426569.1:p.Pro771Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2312C>G
  hgvsp: ENSP00000347329.2:p.Pro771Arg
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24100
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro771Arg
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS

http://identifiers.org/exac.variant/4-83772602-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772602
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772602
    reference: chr 4
allele count: 1
allele frequency: 8.315593400745077e-6
allele num: 120256
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2295T>G
  hgvsp: ENST00000443462.2:c.2295T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2193T>G
  hgvsp: ENST00000513858.1:c.2193T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2193T>G
  hgvsp: ENST00000348405.4:c.2193T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2310T>G
  hgvsp: ENST00000509142.1:c.2310T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2310T>G
  hgvsp: ENST00000508502.1:c.2310T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2193T>G
  hgvsp: ENST00000505984.1:c.2193T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1159T>G
  hgvsp: ENST00000507828.1:c.1159T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2310T>G
  hgvsp: ENST00000311785.7:c.2310T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2193T>G
  hgvsp: ENST00000500777.2:c.2193T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2310T>G
  hgvsp: ENST00000448323.1:c.2310T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2310T>G
  hgvsp: ENST00000432794.1:c.2310T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1509T>G
  hgvsp: ENST00000264405.5:c.1509T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2310T>G
  hgvsp: ENST00000505472.1:c.2310T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2310T>G
  hgvsp: ENST00000395310.2:c.2310T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2310T>G
  hgvsp: ENST00000355196.2:c.2310T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2193T>G
  hgvsp: ENST00000326950.5:c.2193T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2310T>G
  hgvsp: ENST00000508479.1:c.2310T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu770Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

4-83772608-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772608
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772608
    reference: chr 4
allele count: 1
allele frequency: 8.2936619835122e-6
allele num: 120574
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1153T>A
  hgvsp: ENST00000507828.1:c.1153T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2304T>A
  hgvsp: ENST00000311785.7:c.2304T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2187T>A
  hgvsp: ENST00000513858.1:c.2187T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2187T>A
  hgvsp: ENST00000348405.4:c.2187T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2304T>A
  hgvsp: ENST00000395310.2:c.2304T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2187T>A
  hgvsp: ENST00000505984.1:c.2187T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2187T>A
  hgvsp: ENST00000326950.5:c.2187T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2304T>A
  hgvsp: ENST00000432794.1:c.2304T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2289T>A
  hgvsp: ENST00000443462.2:c.2289T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2187T>A
  hgvsp: ENST00000500777.2:c.2187T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1503T>A
  hgvsp: ENST00000264405.5:c.1503T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2304T>A
  hgvsp: ENST00000508479.1:c.2304T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2304T>A
  hgvsp: ENST00000509142.1:c.2304T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2304T>A
  hgvsp: ENST00000505472.1:c.2304T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2304T>A
  hgvsp: ENST00000448323.1:c.2304T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2304T>A
  hgvsp: ENST00000508502.1:c.2304T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2304T>A
  hgvsp: ENST00000355196.2:c.2304T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala768Ala
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

4-83772614-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772614
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772614
    reference: chr 4
allele count: 1
allele frequency: 8.274583788435442e-6
allele num: 120852
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2181C>A
  hgvsp: ENST00000500777.2:c.2181C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2298C>A
  hgvsp: ENST00000355196.2:c.2298C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2298C>A
  hgvsp: ENST00000509142.1:c.2298C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2298C>A
  hgvsp: ENST00000448323.1:c.2298C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1497C>A
  hgvsp: ENST00000264405.5:c.1497C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2298C>A
  hgvsp: ENST00000311785.7:c.2298C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2181C>A
  hgvsp: ENST00000326950.5:c.2181C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2181C>A
  hgvsp: ENST00000505984.1:c.2181C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1147C>A
  hgvsp: ENST00000507828.1:c.1147C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2181C>A
  hgvsp: ENST00000348405.4:c.2181C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2298C>A
  hgvsp: ENST00000395310.2:c.2298C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2298C>A
  hgvsp: ENST00000508502.1:c.2298C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2181C>A
  hgvsp: ENST00000513858.1:c.2181C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2298C>A
  hgvsp: ENST00000432794.1:c.2298C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2283C>A
  hgvsp: ENST00000443462.2:c.2283C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2298C>A
  hgvsp: ENST00000508479.1:c.2298C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2298C>A
  hgvsp: ENST00000505472.1:c.2298C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7145
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala766Ala
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD

4-83772616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772616
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772616
    reference: chr 4
allele count: 1
allele frequency: 8.270888127967181e-6
allele num: 120906
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1495G>A
  hgvsp: ENSP00000264405.5:p.Ala499Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2179G>A
  hgvsp: ENSP00000426886.1:p.Ala727Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2296G>A
  hgvsp: ENSP00000407944.1:p.Ala766Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2179G>A
  hgvsp: ENSP00000424451.1:p.Ala727Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2296G>A
  hgvsp: ENSP00000421633.1:p.Ala766Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2296G>A
  hgvsp: ENSP00000309070.7:p.Ala766Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2296G>A
  hgvsp: ENSP00000424635.1:p.Ala766Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1145G>A
  hgvsp: ENSP00000426562.1:p.Ala383Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2179G>A
  hgvsp: ENSP00000421464.1:p.Ala727Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2296G>A
  hgvsp: ENSP00000400926.1:p.Ala766Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2296G>A
  hgvsp: ENSP00000378721.2:p.Ala766Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2179G>A
  hgvsp: ENSP00000337602.5:p.Ala727Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2296G>A
  hgvsp: ENSP00000425999.1:p.Ala766Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2281G>A
  hgvsp: ENSP00000408027.2:p.Ala761Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2179G>A
  hgvsp: ENSP00000325087.5:p.Ala727Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2296G>A
  hgvsp: ENSP00000347329.2:p.Ala766Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2296G>A
  hgvsp: ENSP00000426569.1:p.Ala766Thr
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala766Thr
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

4-83772617-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772617
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772617
    reference: chr 4
allele count: 1
allele frequency: 8.267879288962381e-6
allele num: 120950
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1494A>G
  hgvsp: ENST00000264405.5:c.1494A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2178A>G
  hgvsp: ENST00000500777.2:c.2178A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2178A>G
  hgvsp: ENST00000348405.4:c.2178A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2295A>G
  hgvsp: ENST00000395310.2:c.2295A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2295A>G
  hgvsp: ENST00000509142.1:c.2295A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1144A>G
  hgvsp: ENST00000507828.1:c.1144A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2295A>G
  hgvsp: ENST00000355196.2:c.2295A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2280A>G
  hgvsp: ENST00000443462.2:c.2280A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2295A>G
  hgvsp: ENST00000432794.1:c.2295A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2295A>G
  hgvsp: ENST00000508479.1:c.2295A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2178A>G
  hgvsp: ENST00000505984.1:c.2178A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2178A>G
  hgvsp: ENST00000513858.1:c.2178A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2295A>G
  hgvsp: ENST00000311785.7:c.2295A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2295A>G
  hgvsp: ENST00000505472.1:c.2295A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2295A>G
  hgvsp: ENST00000448323.1:c.2295A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2178A>G
  hgvsp: ENST00000326950.5:c.2178A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2295A>G
  hgvsp: ENST00000508502.1:c.2295A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24510
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala765Ala
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum

4-83772619-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772619
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772619
    reference: chr 4
allele count: 1
allele frequency: 8.265009256810368e-6
allele num: 120992
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2293G>A
  hgvsp: ENSP00000426569.1:p.Ala765Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1142G>A
  hgvsp: ENSP00000426562.1:p.Ala382Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1492G>A
  hgvsp: ENSP00000264405.5:p.Ala498Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2176G>A
  hgvsp: ENSP00000424451.1:p.Ala726Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2176G>A
  hgvsp: ENSP00000337602.5:p.Ala726Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2293G>A
  hgvsp: ENSP00000421633.1:p.Ala765Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2293G>A
  hgvsp: ENSP00000309070.7:p.Ala765Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2293G>A
  hgvsp: ENSP00000378721.2:p.Ala765Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2176G>A
  hgvsp: ENSP00000426886.1:p.Ala726Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2293G>A
  hgvsp: ENSP00000407944.1:p.Ala765Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2176G>A
  hgvsp: ENSP00000325087.5:p.Ala726Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2278G>A
  hgvsp: ENSP00000408027.2:p.Ala760Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2293G>A
  hgvsp: ENSP00000347329.2:p.Ala765Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2293G>A
  hgvsp: ENSP00000425999.1:p.Ala765Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2176G>A
  hgvsp: ENSP00000421464.1:p.Ala726Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2293G>A
  hgvsp: ENSP00000400926.1:p.Ala765Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2293G>A
  hgvsp: ENSP00000424635.1:p.Ala765Thr
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala765Thr
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

4-83772622-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772622
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772622
    reference: chr 4
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2290G>A
  hgvsp: ENSP00000378721.2:p.Ala764Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2290G>A
  hgvsp: ENSP00000424635.1:p.Ala764Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2290G>A
  hgvsp: ENSP00000309070.7:p.Ala764Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2290G>A
  hgvsp: ENSP00000426569.1:p.Ala764Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2275G>A
  hgvsp: ENSP00000408027.2:p.Ala759Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1139G>A
  hgvsp: ENSP00000426562.1:p.Ala381Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1489G>A
  hgvsp: ENSP00000264405.5:p.Ala497Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2173G>A
  hgvsp: ENSP00000325087.5:p.Ala725Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2290G>A
  hgvsp: ENSP00000421633.1:p.Ala764Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2173G>A
  hgvsp: ENSP00000426886.1:p.Ala725Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2290G>A
  hgvsp: ENSP00000407944.1:p.Ala764Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2173G>A
  hgvsp: ENSP00000337602.5:p.Ala725Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2173G>A
  hgvsp: ENSP00000421464.1:p.Ala725Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2290G>A
  hgvsp: ENSP00000400926.1:p.Ala764Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2173G>A
  hgvsp: ENSP00000424451.1:p.Ala725Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2290G>A
  hgvsp: ENSP00000425999.1:p.Ala764Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2290G>A
  hgvsp: ENSP00000347329.2:p.Ala764Thr
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7172
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala764Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

4-83772627-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772627
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772627
    reference: chr 4
allele count: 1
allele frequency: 8.255047961828658e-6
allele num: 121138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2168G>A
  hgvsp: ENSP00000337602.5:p.Ser723Asn
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2285G>A
  hgvsp: ENSP00000424635.1:p.Ser762Asn
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1484G>A
  hgvsp: ENSP00000264405.5:p.Ser495Asn
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2285G>A
  hgvsp: ENSP00000309070.7:p.Ser762Asn
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2285G>A
  hgvsp: ENSP00000421633.1:p.Ser762Asn
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2270G>A
  hgvsp: ENSP00000408027.2:p.Ser757Asn
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2285G>A
  hgvsp: ENSP00000400926.1:p.Ser762Asn
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2285G>A
  hgvsp: ENSP00000378721.2:p.Ser762Asn
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2285G>A
  hgvsp: ENSP00000426569.1:p.Ser762Asn
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2168G>A
  hgvsp: ENSP00000424451.1:p.Ser723Asn
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1134G>A
  hgvsp: ENSP00000426562.1:p.Ser379Asn
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2285G>A
  hgvsp: ENSP00000407944.1:p.Ser762Asn
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2168G>A
  hgvsp: ENSP00000325087.5:p.Ser723Asn
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2168G>A
  hgvsp: ENSP00000421464.1:p.Ser723Asn
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2285G>A
  hgvsp: ENSP00000347329.2:p.Ser762Asn
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2168G>A
  hgvsp: ENSP00000426886.1:p.Ser723Asn
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2285G>A
  hgvsp: ENSP00000425999.1:p.Ser762Asn
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser762Asn
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

4-83772631-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772631
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772631
    reference: chr 4
allele count: 1
allele frequency: 8.251369727374745e-6
allele num: 121192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2164G>A
  hgvsp: ENSP00000421464.1:p.Gly722Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2164G>A
  hgvsp: ENSP00000337602.5:p.Gly722Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2266G>A
  hgvsp: ENSP00000408027.2:p.Gly756Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2164G>A
  hgvsp: ENSP00000426886.1:p.Gly722Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2281G>A
  hgvsp: ENSP00000424635.1:p.Gly761Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1480G>A
  hgvsp: ENSP00000264405.5:p.Gly494Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2281G>A
  hgvsp: ENSP00000347329.2:p.Gly761Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2281G>A
  hgvsp: ENSP00000378721.2:p.Gly761Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2281G>A
  hgvsp: ENSP00000425999.1:p.Gly761Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1130G>A
  hgvsp: ENSP00000426562.1:p.Gly378Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2281G>A
  hgvsp: ENSP00000309070.7:p.Gly761Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2164G>A
  hgvsp: ENSP00000325087.5:p.Gly722Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2164G>A
  hgvsp: ENSP00000424451.1:p.Gly722Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2281G>A
  hgvsp: ENSP00000407944.1:p.Gly761Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2281G>A
  hgvsp: ENSP00000400926.1:p.Gly761Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2281G>A
  hgvsp: ENSP00000421633.1:p.Gly761Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2281G>A
  hgvsp: ENSP00000426569.1:p.Gly761Ser
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1684
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23326
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly761Ser
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

4-83772648-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772648
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772648
    reference: chr 4
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2264A>G
  hgvsp: ENSP00000378721.2:p.Asn755Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2147A>G
  hgvsp: ENSP00000424451.1:p.Asn716Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2264A>G
  hgvsp: ENSP00000424635.1:p.Asn755Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2249A>G
  hgvsp: ENSP00000408027.2:p.Asn750Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2147A>G
  hgvsp: ENSP00000421464.1:p.Asn716Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2264A>G
  hgvsp: ENSP00000309070.7:p.Asn755Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2264A>G
  hgvsp: ENSP00000407944.1:p.Asn755Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2147A>G
  hgvsp: ENSP00000426886.1:p.Asn716Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2147A>G
  hgvsp: ENSP00000325087.5:p.Asn716Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2264A>G
  hgvsp: ENSP00000400926.1:p.Asn755Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2147A>G
  hgvsp: ENSP00000337602.5:p.Asn716Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1463A>G
  hgvsp: ENSP00000264405.5:p.Asn488Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1113A>G
  hgvsp: ENSP00000426562.1:p.Asn372Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2264A>G
  hgvsp: ENSP00000421633.1:p.Asn755Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2264A>G
  hgvsp: ENSP00000425999.1:p.Asn755Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2264A>G
  hgvsp: ENSP00000347329.2:p.Asn755Ser
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2264A>G
  hgvsp: ENSP00000426569.1:p.Asn755Ser
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23333
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn755Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/4-83772656-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772656
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772656
    reference: chr 4
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2139G>T
  hgvsp: ENSP00000325087.5:p.Gln713His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2139G>T
  hgvsp: ENSP00000424451.1:p.Gln713His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1105G>T
  hgvsp: ENSP00000426562.1:p.Gln369His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2139G>T
  hgvsp: ENSP00000426886.1:p.Gln713His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2256G>T
  hgvsp: ENSP00000347329.2:p.Gln752His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2256G>T
  hgvsp: ENSP00000426569.1:p.Gln752His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2256G>T
  hgvsp: ENSP00000407944.1:p.Gln752His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2256G>T
  hgvsp: ENSP00000425999.1:p.Gln752His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1455G>T
  hgvsp: ENSP00000264405.5:p.Gln485His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2139G>T
  hgvsp: ENSP00000337602.5:p.Gln713His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2139G>T
  hgvsp: ENSP00000421464.1:p.Gln713His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2256G>T
  hgvsp: ENSP00000309070.7:p.Gln752His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2256G>T
  hgvsp: ENSP00000378721.2:p.Gln752His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2256G>T
  hgvsp: ENSP00000421633.1:p.Gln752His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2241G>T
  hgvsp: ENSP00000408027.2:p.Gln747His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2256G>T
  hgvsp: ENSP00000400926.1:p.Gln752His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2256G>T
  hgvsp: ENSP00000424635.1:p.Gln752His
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln752His
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

4-83772659-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772659
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772659
    reference: chr 4
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2253T>C
  hgvsp: ENST00000355196.2:c.2253T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2136T>C
  hgvsp: ENST00000505984.1:c.2136T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2136T>C
  hgvsp: ENST00000500777.2:c.2136T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2253T>C
  hgvsp: ENST00000505472.1:c.2253T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2136T>C
  hgvsp: ENST00000326950.5:c.2136T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2253T>C
  hgvsp: ENST00000508479.1:c.2253T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2238T>C
  hgvsp: ENST00000443462.2:c.2238T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2253T>C
  hgvsp: ENST00000311785.7:c.2253T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2136T>C
  hgvsp: ENST00000348405.4:c.2136T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1452T>C
  hgvsp: ENST00000264405.5:c.1452T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2253T>C
  hgvsp: ENST00000509142.1:c.2253T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2253T>C
  hgvsp: ENST00000395310.2:c.2253T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2253T>C
  hgvsp: ENST00000508502.1:c.2253T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2136T>C
  hgvsp: ENST00000513858.1:c.2136T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2253T>C
  hgvsp: ENST00000432794.1:c.2253T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2253T>C
  hgvsp: ENST00000448323.1:c.2253T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1102T>C
  hgvsp: ENST00000507828.1:c.1102T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser751Ser
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

4-83772668-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772668
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772668
    reference: chr 4
allele count: 2
allele frequency: 1.648641519388024e-5
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2244G>A
  hgvsp: ENST00000311785.7:c.2244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2244G>A
  hgvsp: ENST00000508502.1:c.2244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2244G>A
  hgvsp: ENST00000432794.1:c.2244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2244G>A
  hgvsp: ENST00000509142.1:c.2244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2127G>A
  hgvsp: ENST00000513858.1:c.2127G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2127G>A
  hgvsp: ENST00000500777.2:c.2127G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1093G>A
  hgvsp: ENST00000507828.1:c.1093G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1443G>A
  hgvsp: ENST00000264405.5:c.1443G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424336
  ensembl transcript: ENST00000512664
  gene symbol: SEC31A
  hgvsc: ENST00000512664.1:c.709G>A
  hgvsp: ENST00000512664.1:c.709G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2244G>A
  hgvsp: ENST00000395310.2:c.2244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2127G>A
  hgvsp: ENST00000348405.4:c.2127G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2244G>A
  hgvsp: ENST00000448323.1:c.2244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2127G>A
  hgvsp: ENST00000326950.5:c.2127G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2244G>A
  hgvsp: ENST00000355196.2:c.2244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2229G>A
  hgvsp: ENST00000443462.2:c.2229G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2244G>A
  hgvsp: ENST00000505472.1:c.2244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2244G>A
  hgvsp: ENST00000508479.1:c.2244G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2127G>A
  hgvsp: ENST00000505984.1:c.2127G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala748Ala
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS

4-83772669-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772669
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772669
    reference: chr 4
allele count: 2
allele frequency: 1.648750247312537e-5
allele num: 121304
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2243C>T
  hgvsp: ENSP00000400926.1:p.Ala748Val
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2243C>T
  hgvsp: ENSP00000309070.7:p.Ala748Val
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2243C>T
  hgvsp: ENSP00000425999.1:p.Ala748Val
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424336
  ensembl transcript: ENST00000512664
  gene symbol: SEC31A
  hgvsc: ENST00000512664.1:c.708C>T
  hgvsp: ENSP00000424336.1:p.Ala237Val
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1442C>T
  hgvsp: ENSP00000264405.5:p.Ala481Val
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2243C>T
  hgvsp: ENSP00000378721.2:p.Ala748Val
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2228C>T
  hgvsp: ENSP00000408027.2:p.Ala743Val
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2126C>T
  hgvsp: ENSP00000424451.1:p.Ala709Val
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2243C>T
  hgvsp: ENSP00000347329.2:p.Ala748Val
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2243C>T
  hgvsp: ENSP00000407944.1:p.Ala748Val
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2126C>T
  hgvsp: ENSP00000337602.5:p.Ala709Val
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2126C>T
  hgvsp: ENSP00000421464.1:p.Ala709Val
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1092C>T
  hgvsp: ENSP00000426562.1:p.Ala365Val
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2243C>T
  hgvsp: ENSP00000424635.1:p.Ala748Val
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2243C>T
  hgvsp: ENSP00000426569.1:p.Ala748Val
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2243C>T
  hgvsp: ENSP00000421633.1:p.Ala748Val
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2126C>T
  hgvsp: ENSP00000325087.5:p.Ala709Val
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2126C>T
  hgvsp: ENSP00000426886.1:p.Ala709Val
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24897
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala748Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

4-83772677-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772677
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772677
    reference: chr 4
allele count: 1
allele frequency: 8.243751236562685e-6
allele num: 121304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2235C>G
  hgvsp: ENST00000505472.1:c.2235C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2235C>G
  hgvsp: ENST00000311785.7:c.2235C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2235C>G
  hgvsp: ENST00000355196.2:c.2235C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2118C>G
  hgvsp: ENST00000505984.1:c.2118C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2118C>G
  hgvsp: ENST00000500777.2:c.2118C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2118C>G
  hgvsp: ENST00000326950.5:c.2118C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424336
  ensembl transcript: ENST00000512664
  gene symbol: SEC31A
  hgvsc: ENST00000512664.1:c.700C>G
  hgvsp: ENST00000512664.1:c.700C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1084C>G
  hgvsp: ENST00000507828.1:c.1084C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2235C>G
  hgvsp: ENST00000448323.1:c.2235C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2235C>G
  hgvsp: ENST00000508502.1:c.2235C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2235C>G
  hgvsp: ENST00000509142.1:c.2235C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2118C>G
  hgvsp: ENST00000348405.4:c.2118C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2235C>G
  hgvsp: ENST00000395310.2:c.2235C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2235C>G
  hgvsp: ENST00000508479.1:c.2235C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2118C>G
  hgvsp: ENST00000513858.1:c.2118C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2220C>G
  hgvsp: ENST00000443462.2:c.2220C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1434C>G
  hgvsp: ENST00000264405.5:c.1434C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2235C>G
  hgvsp: ENST00000432794.1:c.2235C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu745Leu
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

4-83772698-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772698
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772698
    reference: chr 4
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2214C>T
  hgvsp: ENST00000395310.2:c.2214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2199C>T
  hgvsp: ENST00000443462.2:c.2199C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2097C>T
  hgvsp: ENST00000500777.2:c.2097C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2214C>T
  hgvsp: ENST00000355196.2:c.2214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1413C>T
  hgvsp: ENST00000264405.5:c.1413C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2214C>T
  hgvsp: ENST00000508479.1:c.2214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2214C>T
  hgvsp: ENST00000448323.1:c.2214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424336
  ensembl transcript: ENST00000512664
  gene symbol: SEC31A
  hgvsc: ENST00000512664.1:c.679C>T
  hgvsp: ENST00000512664.1:c.679C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2214C>T
  hgvsp: ENST00000432794.1:c.2214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2214C>T
  hgvsp: ENST00000509142.1:c.2214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2097C>T
  hgvsp: ENST00000326950.5:c.2097C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2097C>T
  hgvsp: ENST00000505984.1:c.2097C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2214C>T
  hgvsp: ENST00000505472.1:c.2214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2214C>T
  hgvsp: ENST00000508502.1:c.2214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2097C>T
  hgvsp: ENST00000513858.1:c.2097C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2097C>T
  hgvsp: ENST00000348405.4:c.2097C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1063C>T
  hgvsp: ENST00000507828.1:c.1063C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2214C>T
  hgvsp: ENST00000311785.7:c.2214C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp738Asp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

4-83772699-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772699
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772699
    reference: chr 4
allele count: 4
allele frequency: 3.299404457495422e-5
allele num: 121234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2213A>G
  hgvsp: ENSP00000309070.7:p.Asp738Gly
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2096A>G
  hgvsp: ENSP00000325087.5:p.Asp699Gly
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2213A>G
  hgvsp: ENSP00000426569.1:p.Asp738Gly
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2213A>G
  hgvsp: ENSP00000425999.1:p.Asp738Gly
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424336
  ensembl transcript: ENST00000512664
  gene symbol: SEC31A
  hgvsc: ENST00000512664.1:c.678A>G
  hgvsp: ENSP00000424336.1:p.Asp227Gly
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2198A>G
  hgvsp: ENSP00000408027.2:p.Asp733Gly
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2213A>G
  hgvsp: ENSP00000421633.1:p.Asp738Gly
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2096A>G
  hgvsp: ENSP00000424451.1:p.Asp699Gly
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2096A>G
  hgvsp: ENSP00000337602.5:p.Asp699Gly
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2213A>G
  hgvsp: ENSP00000347329.2:p.Asp738Gly
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1062A>G
  hgvsp: ENSP00000426562.1:p.Asp355Gly
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2213A>G
  hgvsp: ENSP00000400926.1:p.Asp738Gly
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2213A>G
  hgvsp: ENSP00000424635.1:p.Asp738Gly
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2213A>G
  hgvsp: ENSP00000378721.2:p.Asp738Gly
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2096A>G
  hgvsp: ENSP00000421464.1:p.Asp699Gly
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2213A>G
  hgvsp: ENSP00000407944.1:p.Asp738Gly
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2096A>G
  hgvsp: ENSP00000426886.1:p.Asp699Gly
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1412A>G
  hgvsp: ENSP00000264405.5:p.Asp471Gly
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp738Gly
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/4-83772701-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772701
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772701
    reference: chr 4
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2211G>T
  hgvsp: ENSP00000424635.1:p.Met737Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2211G>T
  hgvsp: ENSP00000378721.2:p.Met737Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2211G>T
  hgvsp: ENSP00000421633.1:p.Met737Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2211G>T
  hgvsp: ENSP00000309070.7:p.Met737Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424336
  ensembl transcript: ENST00000512664
  gene symbol: SEC31A
  hgvsc: ENST00000512664.1:c.676G>T
  hgvsp: ENSP00000424336.1:p.Met226Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2094G>T
  hgvsp: ENSP00000424451.1:p.Met698Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2094G>T
  hgvsp: ENSP00000337602.5:p.Met698Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2094G>T
  hgvsp: ENSP00000421464.1:p.Met698Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2094G>T
  hgvsp: ENSP00000325087.5:p.Met698Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1060G>T
  hgvsp: ENSP00000426562.1:p.Met354Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1410G>T
  hgvsp: ENSP00000264405.5:p.Met470Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2211G>T
  hgvsp: ENSP00000400926.1:p.Met737Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2211G>T
  hgvsp: ENSP00000347329.2:p.Met737Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2094G>T
  hgvsp: ENSP00000426886.1:p.Met698Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2196G>T
  hgvsp: ENSP00000408027.2:p.Met732Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2211G>T
  hgvsp: ENSP00000425999.1:p.Met737Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2211G>T
  hgvsp: ENSP00000426569.1:p.Met737Ile
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2211G>T
  hgvsp: ENSP00000407944.1:p.Met737Ile
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met737Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

4-83772707-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772707
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772707
    reference: chr 4
allele count: 4
allele frequency: 3.301528607745386e-5
allele num: 121156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2088A>G
  hgvsp: ENST00000348405.4:c.2088A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2088A>G
  hgvsp: ENST00000505984.1:c.2088A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2190A>G
  hgvsp: ENST00000443462.2:c.2190A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2205A>G
  hgvsp: ENST00000355196.2:c.2205A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2205A>G
  hgvsp: ENST00000311785.7:c.2205A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2088A>G
  hgvsp: ENST00000326950.5:c.2088A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2205A>G
  hgvsp: ENST00000395310.2:c.2205A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424336
  ensembl transcript: ENST00000512664
  gene symbol: SEC31A
  hgvsc: ENST00000512664.1:c.670A>G
  hgvsp: ENST00000512664.1:c.670A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2088A>G
  hgvsp: ENST00000500777.2:c.2088A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2205A>G
  hgvsp: ENST00000505472.1:c.2205A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1054A>G
  hgvsp: ENST00000507828.1:c.1054A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1404A>G
  hgvsp: ENST00000264405.5:c.1404A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2205A>G
  hgvsp: ENST00000448323.1:c.2205A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2088A>G
  hgvsp: ENST00000513858.1:c.2088A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2205A>G
  hgvsp: ENST00000432794.1:c.2205A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2205A>G
  hgvsp: ENST00000508479.1:c.2205A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2205A>G
  hgvsp: ENST00000508502.1:c.2205A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2205A>G
  hgvsp: ENST00000509142.1:c.2205A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln735Gln
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

4-83772707-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772707
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772707
    reference: chr 4
allele count: 1
allele frequency: 8.253821519363466e-6
allele num: 121156
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1054A>C
  hgvsp: ENSP00000426562.1:p.Gln352His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1404A>C
  hgvsp: ENSP00000264405.5:p.Gln468His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2205A>C
  hgvsp: ENSP00000400926.1:p.Gln735His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2088A>C
  hgvsp: ENSP00000337602.5:p.Gln696His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2205A>C
  hgvsp: ENSP00000421633.1:p.Gln735His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2205A>C
  hgvsp: ENSP00000407944.1:p.Gln735His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2088A>C
  hgvsp: ENSP00000426886.1:p.Gln696His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2190A>C
  hgvsp: ENSP00000408027.2:p.Gln730His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2205A>C
  hgvsp: ENSP00000309070.7:p.Gln735His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2205A>C
  hgvsp: ENSP00000378721.2:p.Gln735His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2088A>C
  hgvsp: ENSP00000421464.1:p.Gln696His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2088A>C
  hgvsp: ENSP00000424451.1:p.Gln696His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424336
  ensembl transcript: ENST00000512664
  gene symbol: SEC31A
  hgvsc: ENST00000512664.1:c.670A>C
  hgvsp: ENSP00000424336.1:p.Gln224His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2088A>C
  hgvsp: ENSP00000325087.5:p.Gln696His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2205A>C
  hgvsp: ENSP00000425999.1:p.Gln735His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2205A>C
  hgvsp: ENSP00000424635.1:p.Gln735His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2205A>C
  hgvsp: ENSP00000426569.1:p.Gln735His
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2205A>C
  hgvsp: ENSP00000347329.2:p.Gln735His
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24873
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln735His
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS

4-83772708-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772708
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772708
    reference: chr 4
allele count: 4
allele frequency: 3.301637612255679e-5
allele num: 121152
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2087A>G
  hgvsp: ENSP00000421464.1:p.Gln696Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2204A>G
  hgvsp: ENSP00000407944.1:p.Gln735Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2087A>G
  hgvsp: ENSP00000337602.5:p.Gln696Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1403A>G
  hgvsp: ENSP00000264405.5:p.Gln468Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2204A>G
  hgvsp: ENSP00000424635.1:p.Gln735Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2204A>G
  hgvsp: ENSP00000421633.1:p.Gln735Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2204A>G
  hgvsp: ENSP00000426569.1:p.Gln735Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1053A>G
  hgvsp: ENSP00000426562.1:p.Gln352Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2189A>G
  hgvsp: ENSP00000408027.2:p.Gln730Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2204A>G
  hgvsp: ENSP00000378721.2:p.Gln735Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424336
  ensembl transcript: ENST00000512664
  gene symbol: SEC31A
  hgvsc: ENST00000512664.1:c.669A>G
  hgvsp: ENSP00000424336.1:p.Gln224Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2204A>G
  hgvsp: ENSP00000309070.7:p.Gln735Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2204A>G
  hgvsp: ENSP00000425999.1:p.Gln735Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2087A>G
  hgvsp: ENSP00000424451.1:p.Gln696Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2087A>G
  hgvsp: ENSP00000426886.1:p.Gln696Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2087A>G
  hgvsp: ENSP00000325087.5:p.Gln696Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2204A>G
  hgvsp: ENSP00000347329.2:p.Gln735Arg
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2204A>G
  hgvsp: ENSP00000400926.1:p.Gln735Arg
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln735Arg
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

4-83772715-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772715
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772715
    reference: chr 4
allele count: 1
allele frequency: 8.257638315441784e-6
allele num: 121100
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2197C>T
  hgvsp: ENSP00000425999.1:p.Leu733Phe
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2197C>T
  hgvsp: ENSP00000347329.2:p.Leu733Phe
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2197C>T
  hgvsp: ENSP00000407944.1:p.Leu733Phe
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424336
  ensembl transcript: ENST00000512664
  gene symbol: SEC31A
  hgvsc: ENST00000512664.1:c.662C>T
  hgvsp: ENSP00000424336.1:p.Leu222Phe
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2080C>T
  hgvsp: ENSP00000421464.1:p.Leu694Phe
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2197C>T
  hgvsp: ENSP00000400926.1:p.Leu733Phe
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2080C>T
  hgvsp: ENSP00000325087.5:p.Leu694Phe
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2080C>T
  hgvsp: ENSP00000424451.1:p.Leu694Phe
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2197C>T
  hgvsp: ENSP00000309070.7:p.Leu733Phe
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1046C>T
  hgvsp: ENSP00000426562.1:p.Leu350Phe
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2197C>T
  hgvsp: ENSP00000426569.1:p.Leu733Phe
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2080C>T
  hgvsp: ENSP00000337602.5:p.Leu694Phe
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1396C>T
  hgvsp: ENSP00000264405.5:p.Leu466Phe
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2080C>T
  hgvsp: ENSP00000426886.1:p.Leu694Phe
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2197C>T
  hgvsp: ENSP00000378721.2:p.Leu733Phe
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2197C>T
  hgvsp: ENSP00000421633.1:p.Leu733Phe
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2182C>T
  hgvsp: ENSP00000408027.2:p.Leu728Phe
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2197C>T
  hgvsp: ENSP00000424635.1:p.Leu733Phe
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu733Phe
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

4-83772719-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772719
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772719
    reference: chr 4
allele count: 1
allele frequency: 8.266102367411717e-6
allele num: 120976
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2076G>A
  hgvsp: ENST00000505984.1:c.2076G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2193G>A
  hgvsp: ENST00000311785.7:c.2193G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2178G>A
  hgvsp: ENST00000443462.2:c.2178G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2193G>A
  hgvsp: ENST00000505472.1:c.2193G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2076G>A
  hgvsp: ENST00000348405.4:c.2076G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2193G>A
  hgvsp: ENST00000508479.1:c.2193G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1392G>A
  hgvsp: ENST00000264405.5:c.1392G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2076G>A
  hgvsp: ENST00000500777.2:c.2076G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424336
  ensembl transcript: ENST00000512664
  gene symbol: SEC31A
  hgvsc: ENST00000512664.1:c.658G>A
  hgvsp: ENST00000512664.1:c.658G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2076G>A
  hgvsp: ENST00000326950.5:c.2076G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2193G>A
  hgvsp: ENST00000509142.1:c.2193G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2193G>A
  hgvsp: ENST00000508502.1:c.2193G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1042G>A
  hgvsp: ENST00000507828.1:c.1042G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2193G>A
  hgvsp: ENST00000395310.2:c.2193G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2193G>A
  hgvsp: ENST00000355196.2:c.2193G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2193G>A
  hgvsp: ENST00000432794.1:c.2193G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2193G>A
  hgvsp: ENST00000448323.1:c.2193G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2076G>A
  hgvsp: ENST00000513858.1:c.2076G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7181
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val731Val
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

4-83772724-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772724
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772724
    reference: chr 4
allele count: 2
allele frequency: 1.654341820106871e-5
allele num: 120894
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1037G>A
  hgvsp: ENSP00000426562.1:p.Ala347Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2071G>A
  hgvsp: ENSP00000421464.1:p.Ala691Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2188G>A
  hgvsp: ENSP00000425999.1:p.Ala730Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2188G>A
  hgvsp: ENSP00000347329.2:p.Ala730Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2188G>A
  hgvsp: ENSP00000407944.1:p.Ala730Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2188G>A
  hgvsp: ENSP00000309070.7:p.Ala730Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2071G>A
  hgvsp: ENSP00000426886.1:p.Ala691Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424336
  ensembl transcript: ENST00000512664
  gene symbol: SEC31A
  hgvsc: ENST00000512664.1:c.653G>A
  hgvsp: ENSP00000424336.1:p.Ala219Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2188G>A
  hgvsp: ENSP00000378721.2:p.Ala730Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2071G>A
  hgvsp: ENSP00000337602.5:p.Ala691Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2071G>A
  hgvsp: ENSP00000325087.5:p.Ala691Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2188G>A
  hgvsp: ENSP00000424635.1:p.Ala730Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2188G>A
  hgvsp: ENSP00000421633.1:p.Ala730Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2071G>A
  hgvsp: ENSP00000424451.1:p.Ala691Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2188G>A
  hgvsp: ENSP00000426569.1:p.Ala730Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2188G>A
  hgvsp: ENSP00000400926.1:p.Ala730Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2173G>A
  hgvsp: ENSP00000408027.2:p.Ala725Thr
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1387G>A
  hgvsp: ENSP00000264405.5:p.Ala463Thr
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22927
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala730Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

4-83772729-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 83772729
    reference: chr 4
  end: Position
    type: ExactPosition
    position: 83772729
    reference: chr 4
allele count: 7
allele frequency: 5.79671740174564e-5
allele num: 120758
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000309070
  ensembl transcript: ENST00000311785
  gene symbol: SEC31A
  hgvsc: ENST00000311785.7:c.2183G>A
  hgvsp: ENSP00000309070.7:p.Arg728Gln
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424336
  ensembl transcript: ENST00000512664
  gene symbol: SEC31A
  hgvsc: ENST00000512664.1:c.648G>A
  hgvsp: ENSP00000424336.1:p.Arg217Gln
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000407944
  ensembl transcript: ENST00000432794
  gene symbol: SEC31A
  hgvsc: ENST00000432794.1:c.2183G>A
  hgvsp: ENSP00000407944.1:p.Arg728Gln
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000264405
  ensembl transcript: ENST00000264405
  gene symbol: SEC31A
  hgvsc: ENST00000264405.5:c.1382G>A
  hgvsp: ENSP00000264405.5:p.Arg461Gln
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426562
  ensembl transcript: ENST00000507828
  gene symbol: SEC31A
  hgvsc: ENST00000507828.1:c.1032G>A
  hgvsp: ENSP00000426562.1:p.Arg345Gln
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000425999
  ensembl transcript: ENST00000508479
  gene symbol: SEC31A
  hgvsc: ENST00000508479.1:c.2183G>A
  hgvsp: ENSP00000425999.1:p.Arg728Gln
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000378721
  ensembl transcript: ENST00000395310
  gene symbol: SEC31A
  hgvsc: ENST00000395310.2:c.2183G>A
  hgvsp: ENSP00000378721.2:p.Arg728Gln
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421633
  ensembl transcript: ENST00000505472
  gene symbol: SEC31A
  hgvsc: ENST00000505472.1:c.2183G>A
  hgvsp: ENSP00000421633.1:p.Arg728Gln
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000408027
  ensembl transcript: ENST00000443462
  gene symbol: SEC31A
  hgvsc: ENST00000443462.2:c.2168G>A
  hgvsp: ENSP00000408027.2:p.Arg723Gln
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000421464
  ensembl transcript: ENST00000500777
  gene symbol: SEC31A
  hgvsc: ENST00000500777.2:c.2066G>A
  hgvsp: ENSP00000421464.1:p.Arg689Gln
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424451
  ensembl transcript: ENST00000505984
  gene symbol: SEC31A
  hgvsc: ENST00000505984.1:c.2066G>A
  hgvsp: ENSP00000424451.1:p.Arg689Gln
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426886
  ensembl transcript: ENST00000513858
  gene symbol: SEC31A
  hgvsc: ENST00000513858.1:c.2066G>A
  hgvsp: ENSP00000426886.1:p.Arg689Gln
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000337602
  ensembl transcript: ENST00000348405
  gene symbol: SEC31A
  hgvsc: ENST00000348405.4:c.2066G>A
  hgvsp: ENSP00000337602.5:p.Arg689Gln
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000424635
  ensembl transcript: ENST00000508502
  gene symbol: SEC31A
  hgvsc: ENST00000508502.1:c.2183G>A
  hgvsp: ENSP00000424635.1:p.Arg728Gln
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000347329
  ensembl transcript: ENST00000355196
  gene symbol: SEC31A
  hgvsc: ENST00000355196.2:c.2183G>A
  hgvsp: ENSP00000347329.2:p.Arg728Gln
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000400926
  ensembl transcript: ENST00000448323
  gene symbol: SEC31A
  hgvsc: ENST00000448323.1:c.2183G>A
  hgvsp: ENSP00000400926.1:p.Arg728Gln
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000325087
  ensembl transcript: ENST00000326950
  gene symbol: SEC31A
  hgvsc: ENST00000326950.5:c.2066G>A
  hgvsp: ENSP00000325087.5:p.Arg689Gln
  variant of: http://identifiers.org/hgnc/17052
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000138674
  ensembl protein: ENSP00000426569
  ensembl transcript: ENST00000509142
  gene symbol: SEC31A
  hgvsc: ENST00000509142.1:c.2183G>A
  hgvsp: ENSP00000426569.1:p.Arg728Gln
  variant of: http://identifiers.org/hgnc/17052
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 1
hgvs: p.Arg728Gln
num of homozygotes: 0
reference allele: C

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

GenotypeDepth
all individuals: 1781
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 28145
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14734
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 833
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 394
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 116
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 167
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1109
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 720
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3320
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 85
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8114
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 330
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8576
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 2214
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1687
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3521
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7949
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4842
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3799
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

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

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.53e-1

FS
type: SiteQuality
SIO_000300: 6.787e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.39e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.41e0

DP
type: SiteQuality
SIO_000300: 1.75748e6

GenotypeDepth
all individuals: 85
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 28135
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 720
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14733
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 8115
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 330
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 834
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1108
bin: 4.75e1
variant carriers: 0

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

East Asian
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num of homozygotes: 0

Latino
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South Asian
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European (Non-Finnish)
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allele num: 66620
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African
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Other
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European (Finnish)
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QD
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FS
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ReadPosRankSum
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MQRankSum
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ClippingRankSum
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MQ
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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DP
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SIO_000300: 1.754404e6

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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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

South Asian
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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African
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Other
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ClippingRankSum
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QD
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FS
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InbreedingCoeff
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DP
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BaseQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
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MQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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European (Non-Finnish)
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Latino
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East Asian
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South Asian
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Other
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MQ
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FS
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QD
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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European (Non-Finnish)
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Latino
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African
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East Asian
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European (Finnish)
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VQSLOD
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MQRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Non-Finnish)
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Latino
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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FS
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MQ
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ReadPosRankSum
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QD
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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Latino
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East Asian
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Other
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African
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South Asian
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European (Finnish)
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FS
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VQSLOD
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MQ
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ClippingRankSum
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QD
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InbreedingCoeff
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DP
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BaseQRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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African
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East Asian
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European (Finnish)
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Latino
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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FS
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DP
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QD
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VQSLOD
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MQ
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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European (Non-Finnish)
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European (Finnish)
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South Asian
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African
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VQSLOD
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ReadPosRankSum
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FS
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DP
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ClippingRankSum
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InbreedingCoeff
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MQ
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QD
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African
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South Asian
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European (Non-Finnish)
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Latino
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European (Finnish)
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East Asian
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DP
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BaseQRankSum
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MQ
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VQSLOD
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FS
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MQRankSum
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QD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5148760831364e-5
allele num: 66012
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

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

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

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

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

VQSLOD
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SIO_000300: 1.2e0

MQRankSum
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SIO_000300: -3.58e-1

ClippingRankSum
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InbreedingCoeff
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SIO_000300: 1.1e-3

DP
type: SiteQuality
SIO_000300: 1.705525e6

FS
type: SiteQuality
SIO_000300: 1.902e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.226e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.21e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.51e-1

GenotypeDepth
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bin: 1.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

Other
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allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66012
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.764984440535787e-5
allele num: 14782
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ClippingRankSum
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SIO_000300: 4.59e-1

InbreedingCoeff
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SIO_000300: 1.1e-3

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
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SIO_000300: -7.51e-1

QD
type: SiteQuality
SIO_000300: 1.226e1

FS
type: SiteQuality
SIO_000300: 1.902e0

DP
type: SiteQuality
SIO_000300: 1.705525e6

VQSLOD
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SIO_000300: 1.2e0

BaseQRankSum
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SIO_000300: -2.21e0

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 23

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65956
num of homozygotes: 0

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

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

African
type: Population
allele count: 22
allele frequency: 2.120686331212647e-3
allele num: 10374
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: 6.832467887400929e-5
allele num: 14636
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.700976e6

VQSLOD
type: SiteQuality
SIO_000300: 2.23e0

MQRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.962e1

QD
type: SiteQuality
SIO_000300: 1.506e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.4e-1

FS
type: SiteQuality
SIO_000300: 8.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.59e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
all individuals: 96
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517680983457277e-5
allele num: 65890
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.919457514530861e-5
allele num: 14452
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
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SIO_000300: 1.697379e6

VQSLOD
type: SiteQuality
SIO_000300: -1.442e0

FS
type: SiteQuality
SIO_000300: 6.181e0

QD
type: SiteQuality
SIO_000300: 1.463e1

ClippingRankSum
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SIO_000300: -5.8e-1

ReadPosRankSum
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SIO_000300: 7.76e-1

MQRankSum
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SIO_000300: 2.58e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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SIO_000300: 4.1e0

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: 6614
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.517957436473481e-5
allele num: 65878
num of homozygotes: 0

South Asian
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allele count: 0
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ClippingRankSum
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FS
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BaseQRankSum
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MQ
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SIO_000300: 5.978e1

MQRankSum
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QD
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
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allele count: 18
allele frequency: 2.733070148800486e-4
allele num: 65860
num of homozygotes: 0

South Asian
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allele num: 14398
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

VQSLOD
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ReadPosRankSum
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DP
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InbreedingCoeff
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FS
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MQ
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BaseQRankSum
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QD
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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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South Asian
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Other
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African
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European (Non-Finnish)
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East Asian
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Latino
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MQRankSum
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FS
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InbreedingCoeff
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DP
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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European (Non-Finnish)
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South Asian
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European (Finnish)
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QD
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MQ
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MQRankSum
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DP
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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FS
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ClippingRankSum
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Finnish)
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European (Non-Finnish)
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allele num: 65414
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African
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Other
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MQRankSum
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MQ
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FS
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QD
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BaseQRankSum
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VQSLOD
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DP
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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East Asian
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Latino
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European (Non-Finnish)
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Other
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South Asian
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ClippingRankSum
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QD
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MQRankSum
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VQSLOD
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FS
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ReadPosRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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Latino
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European (Finnish)
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South Asian
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Other
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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DP
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FS
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MQ
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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East Asian
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European (Non-Finnish)
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African
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European (Finnish)
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Other
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ReadPosRankSum
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VQSLOD
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QD
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FS
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MQRankSum
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DP
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MQ
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InbreedingCoeff
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ClippingRankSum
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SIO_000300: 2.09e-1

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

Other
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.072574202666994e-5
allele num: 65092
num of homozygotes: 0

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

Latino
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allele 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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VQSLOD
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ClippingRankSum
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BaseQRankSum
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FS
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DP
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MQ
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MQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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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

Other
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num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 7.819831091648421e-5
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num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: 3.0e-4

MQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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QD
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MQ
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BaseQRankSum
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SIO_000300: -1.973e0

VQSLOD
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SIO_000300: -3.685e0

DP
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SIO_000300: 1.604707e6

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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Latino
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num of homozygotes: 0

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

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

Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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DP
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SIO_000300: 1.60795e6

ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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FS
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MQRankSum
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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GenotypeDepth
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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

South Asian
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allele frequency: 7.574609907589759e-5
allele num: 13202
num of homozygotes: 0

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

European (Non-Finnish)
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European (Finnish)
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num of homozygotes: 0

Other
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VQSLOD
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MQ
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DP
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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ReadPosRankSum
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FS
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QD
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ClippingRankSum
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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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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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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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European (Finnish)
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East Asian
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South Asian
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allele num: 14170
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ClippingRankSum
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SIO_000300: 2.17e-1

QD
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DP
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VQSLOD
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FS
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MQRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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European (Non-Finnish)
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European (Finnish)
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South Asian
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QD
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MQRankSum
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MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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DP
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InbreedingCoeff
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FS
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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African
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East Asian
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European (Finnish)
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InbreedingCoeff
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QD
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MQRankSum
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FS
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ClippingRankSum
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VQSLOD
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BaseQRankSum
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DP
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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European (Finnish)
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East Asian
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South Asian
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African
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Other
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European (Non-Finnish)
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DP
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MQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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FS
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MQ
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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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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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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African
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East Asian
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Other
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European (Non-Finnish)
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European (Finnish)
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South Asian
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VQSLOD
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MQ
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QD
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ReadPosRankSum
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DP
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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MQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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South Asian
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Other
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MQ
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VQSLOD
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ReadPosRankSum
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FS
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DP
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ClippingRankSum
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InbreedingCoeff
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QD
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MQRankSum
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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South Asian
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VQSLOD
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MQRankSum
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QD
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InbreedingCoeff
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ReadPosRankSum
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MQ
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FS
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BaseQRankSum
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ClippingRankSum
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DP
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SIO_000300: 1.67037e6

GenotypeDepth
all individuals: 76
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 141
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 958
bin: 4.25e1
variant carriers: 0

GenotypeDepth
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bin: 8.75e1
variant carriers: 0

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
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bin: 7.5e0
variant carriers: 0

GenotypeDepth
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bin: 5.25e1
variant carriers: 0

GenotypeDepth
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bin: 3.75e1
variant carriers: 0

GenotypeDepth
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bin: 7.75e1
variant carriers: 0

GenotypeDepth
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bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 55
bin: 9.25e1
variant carriers: 0

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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bin: 5.75e1
variant carriers: 0

GenotypeDepth
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bin: 6.25e1
variant carriers: 0

GenotypeDepth
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 1710
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16200
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

FS
type: SiteQuality
SIO_000300: 5.629999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e0

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.627e0

DP
type: SiteQuality
SIO_000300: 1.674895e6

VQSLOD
type: SiteQuality
SIO_000300: 1.49e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.144e0

QD
type: SiteQuality
SIO_000300: 1.306e1

GenotypeDepth
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bin: 2.75e1
variant carriers: 0

GenotypeDepth
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bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 201
bin: 6.25e1
variant carriers: 0

GenotypeDepth
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bin: 2.25e1
variant carriers: 0

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4
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variant carriers: 0

GenotypeDepth
all individuals: 1686
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variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 112
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 476
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 237
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variant carriers: 0

GenotypeDepth
all individuals: 55
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variant carriers: 0

GenotypeDepth
all individuals: 125
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variant carriers: 0

GenotypeDepth
all individuals: 74
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 273
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variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.25e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16236
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: 11554
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502358703163967e-5
allele num: 66562
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.675983e6

FS
type: SiteQuality
SIO_000300: 6.211e0

VQSLOD
type: SiteQuality
SIO_000300: -2.598e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -9.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.932e0

QD
type: SiteQuality
SIO_000300: 1.492e1

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

GenotypeDepth
all individuals: 222
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variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 8.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
all individuals: 111
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 44
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 50
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 866
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
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: 16268
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502178158329578e-5
allele num: 66570
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.298e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.87e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

MQRankSum
type: SiteQuality
SIO_000300: -2.47e-1

FS
type: SiteQuality
SIO_000300: 3.581e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.676282e6

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.21e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501862309263487e-5
allele num: 66584
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.858e0

FS
type: SiteQuality
SIO_000300: 2.258e0

VQSLOD
type: SiteQuality
SIO_000300: 7.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.111e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.61e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.44e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

DP
type: SiteQuality
SIO_000300: 1.677506e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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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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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16366
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.47e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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ClippingRankSum
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SIO_000300: -8.159999999999999e-1

ReadPosRankSum
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SIO_000300: 9.5e-1

DP
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SIO_000300: 1.678562e6

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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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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variant carriers: 0

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

Latino
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African
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East Asian
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South Asian
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European (Non-Finnish)
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allele num: 66686
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Other
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InbreedingCoeff
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DP
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QD
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MQ
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BaseQRankSum
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FS
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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East Asian
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African
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European (Non-Finnish)
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South Asian
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Latino
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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DP
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MQ
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QD
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ReadPosRankSum
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VQSLOD
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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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European (Non-Finnish)
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South Asian
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African
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MQ
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VQSLOD
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QD
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FS
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ClippingRankSum
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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African
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Latino
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DP
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BaseQRankSum
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ReadPosRankSum
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MQ
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African
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DP
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MQRankSum
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VQSLOD
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FS
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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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Latino
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South Asian
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East Asian
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European (Non-Finnish)
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African
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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MQ
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FS
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Latino
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African
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European (Non-Finnish)
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FS
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VQSLOD
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QD
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DP
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VQSLOD
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QD
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MQ
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European (Finnish)
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Latino
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East Asian
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African
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FS
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MQ
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InbreedingCoeff
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SIO_000300: -1.594e0

MQRankSum
type: SiteQuality
SIO_000300: 8.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.398e0

VQSLOD
type: SiteQuality
SIO_000300: 7.25e-1

QD
type: SiteQuality
SIO_000300: 1.43e1

DP
type: SiteQuality
SIO_000300: 1.677611e6

GenotypeDepth
all individuals: 24816
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 957
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 697
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 200
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 477
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 82
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7183
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 55
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 73
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 248
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 125
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1681
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 76
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 119
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 71
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44514
bin: 6.25e1
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: 40
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3021
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1664
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7462
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 520
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 7.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.008604609182261e-5
allele num: 66476
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.601e0

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.16e0

QD
type: SiteQuality
SIO_000300: 1.278e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.007e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

DP
type: SiteQuality
SIO_000300: 1.676475e6

GenotypeDepth
all individuals: 277
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 76
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 315
bin: 7.5e0
variant carriers: 0