http://identifiers.org/exac.variant/17-75494594-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494594
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494593
    reference: chr 17
allele count: 1
allele frequency: 5.461496450027307e-5
allele num: 18310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1572-10delA
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.293-10delA
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.873-10delA
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1569-10delA
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.954-10delA
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1290-10delA
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1134-10delA
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1605-10delA
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1134-10delA
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.873-10delA
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.873-10delA
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1626-10delA
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1572-10delA
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1134-10delA
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1134-10delA
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30997
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: CA
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

http://identifiers.org/exac.variant/17-75494594-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494594
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494594
    reference: chr 17
allele count: 1
allele frequency: 5.461496450027307e-5
allele num: 18310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1569-11C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1134-11C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1134-11C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1134-11C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1134-11C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.873-11C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.873-11C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.954-11C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1572-11C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1626-11C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.293-11C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1572-11C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1605-11C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.873-11C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1290-11C>A
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30997
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1353
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

http://identifiers.org/exac.variant/17-75494595-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494595
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494595
    reference: chr 17
allele count: 19
allele frequency: 1.290760869565217e-3
allele num: 14720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1569-10A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.873-10A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1572-10A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.873-10A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1134-10A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.873-10A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.954-10A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1572-10A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1605-10A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1626-10A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1290-10A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1134-10A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.293-10A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1134-10A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1134-10A>C
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 29314
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: A
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

17-75494596-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494596
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494596
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 18942
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1134-9C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1605-9C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.873-9C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1134-9C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1572-9C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.293-9C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1569-9C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1290-9C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1134-9C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1572-9C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.873-9C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.873-9C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1134-9C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1626-9C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.954-9C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10849
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

17-75494600-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494600
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494600
    reference: chr 17
allele count: 1
allele frequency: 5.071508266558474e-5
allele num: 19718
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.873-5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1134-5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.873-5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1572-5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1569-5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1605-5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1290-5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1572-5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.954-5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1134-5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1134-5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.293-5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1626-5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1134-5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.873-5C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 560
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.1626-5C>T
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

17-75494608-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494608
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494608
    reference: chr 17
allele count: 1
allele frequency: 4.745634016704632e-5
allele num: 21072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.876G>A
  hgvsp: ENST00000591088.1:c.876G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.296G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1629G>A
  hgvsp: ENST00000427177.1:c.1629G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.876G>A
  hgvsp: ENST00000592951.1:c.876G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1572G>A
  hgvsp: ENST00000591198.1:c.1572G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1293G>A
  hgvsp: ENST00000427180.1:c.1293G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1575G>A
  hgvsp: ENST00000329047.8:c.1575G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1137G>A
  hgvsp: ENST00000449803.2:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1137G>A
  hgvsp: ENST00000588690.1:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1575G>A
  hgvsp: ENST00000590294.1:c.1575G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1137G>A
  hgvsp: ENST00000431235.2:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1608G>A
  hgvsp: ENST00000423034.2:c.1608G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.876G>A
  hgvsp: ENST00000541152.2:c.876G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.957G>A
  hgvsp: ENST00000585930.1:c.957G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1137G>A
  hgvsp: ENST00000427674.2:c.1137G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 868
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19377
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr543Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

17-75494631-TCAC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494631
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494628
    reference: chr 17
allele count: 1
allele frequency: 3.192440301366364e-5
allele num: 31324
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1319_1321delCCA
  hgvsp: ENSP00000415624.1:p.Thr440del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.902_904delCCA
  hgvsp: ENSP00000438089.2:p.Thr301del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.322_324delCCA
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.983_985delCCA
  hgvsp: ENSP00000468120.1:p.Thr328del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1163_1165delCCA
  hgvsp: ENSP00000403194.1:p.Thr388del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1601_1603delCCA
  hgvsp: ENSP00000329161.8:p.Thr534del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1655_1657delCCA
  hgvsp: ENSP00000391249.1:p.Thr552del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1163_1165delCCA
  hgvsp: ENSP00000468668.1:p.Thr388del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1598_1600delCCA
  hgvsp: ENSP00000468406.1:p.Thr533del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1163_1165delCCA
  hgvsp: ENSP00000400181.2:p.Thr388del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.902_904delCCA
  hgvsp: ENSP00000466648.1:p.Thr301del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1601_1603delCCA
  hgvsp: ENSP00000465464.1:p.Thr534del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1634_1636delCCA
  hgvsp: ENSP00000405877.1:p.Thr545del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1163_1165delCCA
  hgvsp: ENSP00000406987.2:p.Thr388del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.902_904delCCA
  hgvsp: ENSP00000466247.1:p.Thr301del
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Thr552del
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: TCAC
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff

17-75494636-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494636
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494636
    reference: chr 17
allele count: 1
allele frequency: 2.788311398616998e-5
allele num: 35864
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1165A>G
  hgvsp: ENSP00000403194.1:p.Ser389Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1165A>G
  hgvsp: ENSP00000406987.2:p.Ser389Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.324A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.904A>G
  hgvsp: ENSP00000466247.1:p.Ser302Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1165A>G
  hgvsp: ENSP00000400181.2:p.Ser389Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1636A>G
  hgvsp: ENSP00000405877.1:p.Ser546Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.904A>G
  hgvsp: ENSP00000438089.2:p.Ser302Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1603A>G
  hgvsp: ENSP00000329161.8:p.Ser535Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1600A>G
  hgvsp: ENSP00000468406.1:p.Ser534Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1321A>G
  hgvsp: ENSP00000415624.1:p.Ser441Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.904A>G
  hgvsp: ENSP00000466648.1:p.Ser302Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1603A>G
  hgvsp: ENSP00000465464.1:p.Ser535Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1165A>G
  hgvsp: ENSP00000468668.1:p.Ser389Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1657A>G
  hgvsp: ENSP00000391249.1:p.Ser553Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.985A>G
  hgvsp: ENSP00000468120.1:p.Ser329Gly
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4396
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34026
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1425
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser553Gly
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

17-75494650-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494650
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494650
    reference: chr 17
allele count: 2
allele frequency: 3.971405877680699e-5
allele num: 50360
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1179C>T
  hgvsp: ENST00000427674.2:c.1179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1614C>T
  hgvsp: ENST00000591198.1:c.1614C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1179C>T
  hgvsp: ENST00000449803.2:c.1179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1179C>T
  hgvsp: ENST00000431235.2:c.1179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.918C>T
  hgvsp: ENST00000592951.1:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1617C>T
  hgvsp: ENST00000590294.1:c.1617C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1335C>T
  hgvsp: ENST00000427180.1:c.1335C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1650C>T
  hgvsp: ENST00000423034.2:c.1650C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1671C>T
  hgvsp: ENST00000427177.1:c.1671C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1617C>T
  hgvsp: ENST00000329047.8:c.1617C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.918C>T
  hgvsp: ENST00000591088.1:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.999C>T
  hgvsp: ENST00000585930.1:c.999C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.918C>T
  hgvsp: ENST00000541152.2:c.918C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.338C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1179C>T
  hgvsp: ENST00000588690.1:c.1179C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe557Phe
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

17-75494655-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494655
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494655
    reference: chr 17
allele count: 1
allele frequency: 1.712211492363537e-5
allele num: 58404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1184C>T
  hgvsp: ENSP00000406987.2:p.Ala395Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1622C>T
  hgvsp: ENSP00000465464.1:p.Ala541Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1619C>T
  hgvsp: ENSP00000468406.1:p.Ala540Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.923C>T
  hgvsp: ENSP00000466648.1:p.Ala308Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1676C>T
  hgvsp: ENSP00000391249.1:p.Ala559Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1622C>T
  hgvsp: ENSP00000329161.8:p.Ala541Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1004C>T
  hgvsp: ENSP00000468120.1:p.Ala335Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.343C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1184C>T
  hgvsp: ENSP00000468668.1:p.Ala395Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.923C>T
  hgvsp: ENSP00000438089.2:p.Ala308Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1340C>T
  hgvsp: ENSP00000415624.1:p.Ala447Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1184C>T
  hgvsp: ENSP00000400181.2:p.Ala395Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1655C>T
  hgvsp: ENSP00000405877.1:p.Ala552Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.923C>T
  hgvsp: ENSP00000466247.1:p.Ala308Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1184C>T
  hgvsp: ENSP00000403194.1:p.Ala395Val
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2808
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala559Val
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

17-75494656-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494656
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494656
    reference: chr 17
allele count: 1
allele frequency: 1.643655489809336e-5
allele num: 60840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1620G>A
  hgvsp: ENST00000591198.1:c.1620G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.344G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1185G>A
  hgvsp: ENST00000588690.1:c.1185G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1341G>A
  hgvsp: ENST00000427180.1:c.1341G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.924G>A
  hgvsp: ENST00000592951.1:c.924G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1656G>A
  hgvsp: ENST00000423034.2:c.1656G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.924G>A
  hgvsp: ENST00000541152.2:c.924G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1005G>A
  hgvsp: ENST00000585930.1:c.1005G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1677G>A
  hgvsp: ENST00000427177.1:c.1677G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1623G>A
  hgvsp: ENST00000590294.1:c.1623G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1185G>A
  hgvsp: ENST00000431235.2:c.1185G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1185G>A
  hgvsp: ENST00000427674.2:c.1185G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.924G>A
  hgvsp: ENST00000591088.1:c.924G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1185G>A
  hgvsp: ENST00000449803.2:c.1185G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1623G>A
  hgvsp: ENST00000329047.8:c.1623G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15713
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala559Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

17-75494661-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494661
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494661
    reference: chr 17
allele count: 2
allele frequency: 2.950200613641727e-5
allele num: 67792
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1190G>A
  hgvsp: ENSP00000400181.2:p.Arg397His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.929G>A
  hgvsp: ENSP00000438089.2:p.Arg310His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1661G>A
  hgvsp: ENSP00000405877.1:p.Arg554His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1010G>A
  hgvsp: ENSP00000468120.1:p.Arg337His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1682G>A
  hgvsp: ENSP00000391249.1:p.Arg561His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1628G>A
  hgvsp: ENSP00000465464.1:p.Arg543His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.349G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.929G>A
  hgvsp: ENSP00000466247.1:p.Arg310His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1190G>A
  hgvsp: ENSP00000406987.2:p.Arg397His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1625G>A
  hgvsp: ENSP00000468406.1:p.Arg542His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1190G>A
  hgvsp: ENSP00000468668.1:p.Arg397His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1346G>A
  hgvsp: ENSP00000415624.1:p.Arg449His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1190G>A
  hgvsp: ENSP00000403194.1:p.Arg397His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.929G>A
  hgvsp: ENSP00000466648.1:p.Arg310His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1628G>A
  hgvsp: ENSP00000329161.8:p.Arg543His
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18339
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24027
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg561His
num of homozygotes: 0
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

17-75494669-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494669
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494669
    reference: chr 17
allele count: 1
allele frequency: 1.307873397855088e-5
allele num: 76460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1669C>T
  hgvsp: ENSP00000405877.1:p.Arg557Cys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1198C>T
  hgvsp: ENSP00000468668.1:p.Arg400Cys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1633C>T
  hgvsp: ENSP00000468406.1:p.Arg545Cys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1198C>T
  hgvsp: ENSP00000403194.1:p.Arg400Cys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1198C>T
  hgvsp: ENSP00000400181.2:p.Arg400Cys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.937C>T
  hgvsp: ENSP00000466648.1:p.Arg313Cys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1690C>T
  hgvsp: ENSP00000391249.1:p.Arg564Cys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1636C>T
  hgvsp: ENSP00000465464.1:p.Arg546Cys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1018C>T
  hgvsp: ENSP00000468120.1:p.Arg340Cys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1198C>T
  hgvsp: ENSP00000406987.2:p.Arg400Cys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.357C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1354C>T
  hgvsp: ENSP00000415624.1:p.Arg452Cys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1636C>T
  hgvsp: ENSP00000329161.8:p.Arg546Cys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.937C>T
  hgvsp: ENSP00000438089.2:p.Arg313Cys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.937C>T
  hgvsp: ENSP00000466247.1:p.Arg313Cys
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21922
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg564Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum

17-75494670-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494670
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494670
    reference: chr 17
allele count: 9
allele frequency: 1.146759766570679e-4
allele num: 78482
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1199G>A
  hgvsp: ENSP00000468668.1:p.Arg400His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.358G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1199G>A
  hgvsp: ENSP00000400181.2:p.Arg400His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1199G>A
  hgvsp: ENSP00000403194.1:p.Arg400His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1637G>A
  hgvsp: ENSP00000465464.1:p.Arg546His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1019G>A
  hgvsp: ENSP00000468120.1:p.Arg340His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1670G>A
  hgvsp: ENSP00000405877.1:p.Arg557His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1634G>A
  hgvsp: ENSP00000468406.1:p.Arg545His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.938G>A
  hgvsp: ENSP00000466247.1:p.Arg313His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1355G>A
  hgvsp: ENSP00000415624.1:p.Arg452His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1691G>A
  hgvsp: ENSP00000391249.1:p.Arg564His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1637G>A
  hgvsp: ENSP00000329161.8:p.Arg546His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.938G>A
  hgvsp: ENSP00000438089.2:p.Arg313His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.938G>A
  hgvsp: ENSP00000466648.1:p.Arg313His
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1199G>A
  hgvsp: ENSP00000406987.2:p.Arg400His
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 567
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg564His
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

17-75494677-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494677
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494677
    reference: chr 17
allele count: 2
allele frequency: 2.344171218265782e-5
allele num: 85318
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1677C>G
  hgvsp: ENSP00000405877.1:p.Asn559Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.945C>G
  hgvsp: ENSP00000438089.2:p.Asn315Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1206C>G
  hgvsp: ENSP00000468668.1:p.Asn402Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1206C>G
  hgvsp: ENSP00000400181.2:p.Asn402Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1206C>G
  hgvsp: ENSP00000403194.1:p.Asn402Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1644C>G
  hgvsp: ENSP00000465464.1:p.Asn548Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.945C>G
  hgvsp: ENSP00000466247.1:p.Asn315Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1644C>G
  hgvsp: ENSP00000329161.8:p.Asn548Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1362C>G
  hgvsp: ENSP00000415624.1:p.Asn454Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.945C>G
  hgvsp: ENSP00000466648.1:p.Asn315Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1641C>G
  hgvsp: ENSP00000468406.1:p.Asn547Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.365C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1206C>G
  hgvsp: ENSP00000406987.2:p.Asn402Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1698C>G
  hgvsp: ENSP00000391249.1:p.Asn566Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1026C>G
  hgvsp: ENSP00000468120.1:p.Asn342Lys
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25441
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4583
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1230
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16256
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn566Lys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

17-75494677-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494677
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494677
    reference: chr 17
allele count: 2
allele frequency: 2.344171218265782e-5
allele num: 85318
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1644C>T
  hgvsp: ENST00000329047.8:c.1644C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.945C>T
  hgvsp: ENST00000592951.1:c.945C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1641C>T
  hgvsp: ENST00000591198.1:c.1641C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1206C>T
  hgvsp: ENST00000449803.2:c.1206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1698C>T
  hgvsp: ENST00000427177.1:c.1698C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1677C>T
  hgvsp: ENST00000423034.2:c.1677C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1644C>T
  hgvsp: ENST00000590294.1:c.1644C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1206C>T
  hgvsp: ENST00000427674.2:c.1206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1362C>T
  hgvsp: ENST00000427180.1:c.1362C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1206C>T
  hgvsp: ENST00000431235.2:c.1206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.945C>T
  hgvsp: ENST00000541152.2:c.945C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1026C>T
  hgvsp: ENST00000585930.1:c.1026C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1206C>T
  hgvsp: ENST00000588690.1:c.1206C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.365C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.945C>T
  hgvsp: ENST00000591088.1:c.945C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn566Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

17-75494678-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494678
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494678
    reference: chr 17
allele count: 31
allele frequency: 3.591621095560293e-4
allele num: 86312
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1645G>A
  hgvsp: ENSP00000329161.8:p.Glu549Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1207G>A
  hgvsp: ENSP00000403194.1:p.Glu403Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.946G>A
  hgvsp: ENSP00000466648.1:p.Glu316Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1207G>A
  hgvsp: ENSP00000468668.1:p.Glu403Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1645G>A
  hgvsp: ENSP00000465464.1:p.Glu549Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1642G>A
  hgvsp: ENSP00000468406.1:p.Glu548Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.366G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1027G>A
  hgvsp: ENSP00000468120.1:p.Glu343Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1678G>A
  hgvsp: ENSP00000405877.1:p.Glu560Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.946G>A
  hgvsp: ENSP00000466247.1:p.Glu316Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1363G>A
  hgvsp: ENSP00000415624.1:p.Glu455Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1207G>A
  hgvsp: ENSP00000406987.2:p.Glu403Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1207G>A
  hgvsp: ENSP00000400181.2:p.Glu403Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.946G>A
  hgvsp: ENSP00000438089.2:p.Glu316Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1699G>A
  hgvsp: ENSP00000391249.1:p.Glu567Lys
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1745
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4716
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 25736
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu567Lys
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

17-75494687-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494687
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494687
    reference: chr 17
allele count: 2
allele frequency: 2.163378331602631e-5
allele num: 92448
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1372A>G
  hgvsp: ENSP00000415624.1:p.Ser458Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.955A>G
  hgvsp: ENSP00000466648.1:p.Ser319Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1036A>G
  hgvsp: ENSP00000468120.1:p.Ser346Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.375A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1687A>G
  hgvsp: ENSP00000405877.1:p.Ser563Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1654A>G
  hgvsp: ENSP00000329161.8:p.Ser552Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1216A>G
  hgvsp: ENSP00000468668.1:p.Ser406Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1216A>G
  hgvsp: ENSP00000403194.1:p.Ser406Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1654A>G
  hgvsp: ENSP00000465464.1:p.Ser552Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.955A>G
  hgvsp: ENSP00000466247.1:p.Ser319Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1651A>G
  hgvsp: ENSP00000468406.1:p.Ser551Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1216A>G
  hgvsp: ENSP00000400181.2:p.Ser406Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1708A>G
  hgvsp: ENSP00000391249.1:p.Ser570Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.955A>G
  hgvsp: ENSP00000438089.2:p.Ser319Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1216A>G
  hgvsp: ENSP00000406987.2:p.Ser406Gly
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1750
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser570Gly
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP

17-75494688-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494688
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494688
    reference: chr 17
allele count: 1
allele frequency: 1.075268817204301e-5
allele num: 93000
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1037G>A
  hgvsp: ENSP00000468120.1:p.Ser346Asn
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1688G>A
  hgvsp: ENSP00000405877.1:p.Ser563Asn
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1655G>A
  hgvsp: ENSP00000329161.8:p.Ser552Asn
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.956G>A
  hgvsp: ENSP00000466247.1:p.Ser319Asn
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1217G>A
  hgvsp: ENSP00000468668.1:p.Ser406Asn
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1652G>A
  hgvsp: ENSP00000468406.1:p.Ser551Asn
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.956G>A
  hgvsp: ENSP00000466648.1:p.Ser319Asn
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.956G>A
  hgvsp: ENSP00000438089.2:p.Ser319Asn
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.376G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1373G>A
  hgvsp: ENSP00000415624.1:p.Ser458Asn
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1217G>A
  hgvsp: ENSP00000403194.1:p.Ser406Asn
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1709G>A
  hgvsp: ENSP00000391249.1:p.Ser570Asn
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1217G>A
  hgvsp: ENSP00000400181.2:p.Ser406Asn
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1217G>A
  hgvsp: ENSP00000406987.2:p.Ser406Asn
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1655G>A
  hgvsp: ENSP00000465464.1:p.Ser552Asn
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5504
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser570Asn
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum

17-75494689-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494689
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494689
    reference: chr 17
allele count: 1
allele frequency: 1.072041166380789e-5
allele num: 93280
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1038C>T
  hgvsp: ENST00000585930.1:c.1038C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1218C>T
  hgvsp: ENST00000588690.1:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.377C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1218C>T
  hgvsp: ENST00000431235.2:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1710C>T
  hgvsp: ENST00000427177.1:c.1710C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1218C>T
  hgvsp: ENST00000427674.2:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1689C>T
  hgvsp: ENST00000423034.2:c.1689C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1374C>T
  hgvsp: ENST00000427180.1:c.1374C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.957C>T
  hgvsp: ENST00000591088.1:c.957C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1218C>T
  hgvsp: ENST00000449803.2:c.1218C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1656C>T
  hgvsp: ENST00000590294.1:c.1656C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.957C>T
  hgvsp: ENST00000592951.1:c.957C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1653C>T
  hgvsp: ENST00000591198.1:c.1653C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.957C>T
  hgvsp: ENST00000541152.2:c.957C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1656C>T
  hgvsp: ENST00000329047.8:c.1656C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser570Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

17-75494690-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494690
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494690
    reference: chr 17
allele count: 3
allele frequency: 3.192508247312972e-5
allele num: 93970
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.958G>A
  hgvsp: ENSP00000466247.1:p.Ala320Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1219G>A
  hgvsp: ENSP00000406987.2:p.Ala407Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1039G>A
  hgvsp: ENSP00000468120.1:p.Ala347Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1657G>A
  hgvsp: ENSP00000465464.1:p.Ala553Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1219G>A
  hgvsp: ENSP00000400181.2:p.Ala407Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1219G>A
  hgvsp: ENSP00000468668.1:p.Ala407Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.958G>A
  hgvsp: ENSP00000438089.2:p.Ala320Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.378G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1219G>A
  hgvsp: ENSP00000403194.1:p.Ala407Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1375G>A
  hgvsp: ENSP00000415624.1:p.Ala459Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1690G>A
  hgvsp: ENSP00000405877.1:p.Ala564Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.958G>A
  hgvsp: ENSP00000466648.1:p.Ala320Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1654G>A
  hgvsp: ENSP00000468406.1:p.Ala552Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1657G>A
  hgvsp: ENSP00000329161.8:p.Ala553Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1711G>A
  hgvsp: ENSP00000391249.1:p.Ala571Thr
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1945
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12154
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala571Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

17-75494693-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494693
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494693
    reference: chr 17
allele count: 1
allele frequency: 1.042883363924579e-5
allele num: 95888
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1657A>G
  hgvsp: ENSP00000468406.1:p.Met553Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1693A>G
  hgvsp: ENSP00000405877.1:p.Met565Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.961A>G
  hgvsp: ENSP00000466247.1:p.Met321Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.961A>G
  hgvsp: ENSP00000466648.1:p.Met321Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1378A>G
  hgvsp: ENSP00000415624.1:p.Met460Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1222A>G
  hgvsp: ENSP00000468668.1:p.Met408Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1660A>G
  hgvsp: ENSP00000329161.8:p.Met554Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1222A>G
  hgvsp: ENSP00000403194.1:p.Met408Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1042A>G
  hgvsp: ENSP00000468120.1:p.Met348Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.381A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1660A>G
  hgvsp: ENSP00000465464.1:p.Met554Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.961A>G
  hgvsp: ENSP00000438089.2:p.Met321Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1714A>G
  hgvsp: ENSP00000391249.1:p.Met572Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1222A>G
  hgvsp: ENSP00000400181.2:p.Met408Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1222A>G
  hgvsp: ENSP00000406987.2:p.Met408Val
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11379
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2625
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met572Val
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

17-75494696-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494696
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494696
    reference: chr 17
allele count: 2
allele frequency: 2.06966492124925e-5
allele num: 96634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1663G>A
  hgvsp: ENSP00000465464.1:p.Ala555Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1660G>A
  hgvsp: ENSP00000468406.1:p.Ala554Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.964G>A
  hgvsp: ENSP00000438089.2:p.Ala322Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1381G>A
  hgvsp: ENSP00000415624.1:p.Ala461Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1717G>A
  hgvsp: ENSP00000391249.1:p.Ala573Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1225G>A
  hgvsp: ENSP00000400181.2:p.Ala409Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1225G>A
  hgvsp: ENSP00000403194.1:p.Ala409Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1225G>A
  hgvsp: ENSP00000406987.2:p.Ala409Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1225G>A
  hgvsp: ENSP00000468668.1:p.Ala409Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1696G>A
  hgvsp: ENSP00000405877.1:p.Ala566Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1045G>A
  hgvsp: ENSP00000468120.1:p.Ala349Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.964G>A
  hgvsp: ENSP00000466648.1:p.Ala322Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.964G>A
  hgvsp: ENSP00000466247.1:p.Ala322Thr
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.384G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1663G>A
  hgvsp: ENSP00000329161.8:p.Ala555Thr
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1145
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10901
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala573Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

17-75494701-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494701
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494701
    reference: chr 17
allele count: 7
allele frequency: 7.142711373237281e-5
allele num: 98002
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1230C>T
  hgvsp: ENST00000449803.2:c.1230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1668C>T
  hgvsp: ENST00000329047.8:c.1668C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.389C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1665C>T
  hgvsp: ENST00000591198.1:c.1665C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1668C>T
  hgvsp: ENST00000590294.1:c.1668C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1230C>T
  hgvsp: ENST00000431235.2:c.1230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.969C>T
  hgvsp: ENST00000541152.2:c.969C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.969C>T
  hgvsp: ENST00000592951.1:c.969C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1050C>T
  hgvsp: ENST00000585930.1:c.1050C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1701C>T
  hgvsp: ENST00000423034.2:c.1701C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1386C>T
  hgvsp: ENST00000427180.1:c.1386C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1230C>T
  hgvsp: ENST00000427674.2:c.1230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1230C>T
  hgvsp: ENST00000588690.1:c.1230C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1722C>T
  hgvsp: ENST00000427177.1:c.1722C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.969C>T
  hgvsp: ENST00000591088.1:c.969C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10247
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28922
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Asn574Asn
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

17-75494702-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494702
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494702
    reference: chr 17
allele count: 12
allele frequency: 1.218447292000894e-4
allele num: 98486
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.390G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1231G>A
  hgvsp: ENSP00000403194.1:p.Gly411Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1669G>A
  hgvsp: ENSP00000329161.8:p.Gly557Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1231G>A
  hgvsp: ENSP00000468668.1:p.Gly411Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1387G>A
  hgvsp: ENSP00000415624.1:p.Gly463Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1666G>A
  hgvsp: ENSP00000468406.1:p.Gly556Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1723G>A
  hgvsp: ENSP00000391249.1:p.Gly575Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1231G>A
  hgvsp: ENSP00000406987.2:p.Gly411Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1669G>A
  hgvsp: ENSP00000465464.1:p.Gly557Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.970G>A
  hgvsp: ENSP00000466648.1:p.Gly324Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1702G>A
  hgvsp: ENSP00000405877.1:p.Gly568Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.970G>A
  hgvsp: ENSP00000438089.2:p.Gly324Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1231G>A
  hgvsp: ENSP00000400181.2:p.Gly411Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1051G>A
  hgvsp: ENSP00000468120.1:p.Gly351Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.970G>A
  hgvsp: ENSP00000466247.1:p.Gly324Ser
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 835
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28949
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly575Ser
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS

17-75494704-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494704
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494704
    reference: chr 17
allele count: 1
allele frequency: 1.009224310195184e-5
allele num: 99086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1233C>T
  hgvsp: ENST00000431235.2:c.1233C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1233C>T
  hgvsp: ENST00000427674.2:c.1233C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1668C>T
  hgvsp: ENST00000591198.1:c.1668C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1725C>T
  hgvsp: ENST00000427177.1:c.1725C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1233C>T
  hgvsp: ENST00000588690.1:c.1233C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1053C>T
  hgvsp: ENST00000585930.1:c.1053C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1389C>T
  hgvsp: ENST00000427180.1:c.1389C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1671C>T
  hgvsp: ENST00000329047.8:c.1671C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1704C>T
  hgvsp: ENST00000423034.2:c.1704C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1671C>T
  hgvsp: ENST00000590294.1:c.1671C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.972C>T
  hgvsp: ENST00000541152.2:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.972C>T
  hgvsp: ENST00000592951.1:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1233C>T
  hgvsp: ENST00000449803.2:c.1233C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.392C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.972C>T
  hgvsp: ENST00000591088.1:c.972C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28912
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9759
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7026
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly575Gly
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

17-75494704-CATG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494704
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494701
    reference: chr 17
allele count: 2
allele frequency: 2.018448620390368e-5
allele num: 99086
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1672_1674delATG
  hgvsp: ENSP00000329161.8:p.Met558del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1672_1674delATG
  hgvsp: ENSP00000465464.1:p.Met558del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1726_1728delATG
  hgvsp: ENSP00000391249.1:p.Met576del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1234_1236delATG
  hgvsp: ENSP00000468668.1:p.Met412del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1234_1236delATG
  hgvsp: ENSP00000400181.2:p.Met412del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1234_1236delATG
  hgvsp: ENSP00000403194.1:p.Met412del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1390_1392delATG
  hgvsp: ENSP00000415624.1:p.Met464del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1669_1671delATG
  hgvsp: ENSP00000468406.1:p.Met557del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.973_975delATG
  hgvsp: ENSP00000466648.1:p.Met325del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.973_975delATG
  hgvsp: ENSP00000438089.2:p.Met325del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1054_1056delATG
  hgvsp: ENSP00000468120.1:p.Met352del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1705_1707delATG
  hgvsp: ENSP00000405877.1:p.Met569del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1234_1236delATG
  hgvsp: ENSP00000406987.2:p.Met412del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.973_975delATG
  hgvsp: ENSP00000466247.1:p.Met325del
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.393_395delATG
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2057
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28912
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met576del
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: CATG
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

17-75494705-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494705
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494705
    reference: chr 17
allele count: 108067
allele frequency: 9.371379513684137e-1
allele num: 115316
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1054A>G
  hgvsp: ENSP00000468120.1:p.Met352Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1726A>G
  hgvsp: ENSP00000391249.1:p.Met576Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1672A>G
  hgvsp: ENSP00000465464.1:p.Met558Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.973A>G
  hgvsp: ENSP00000466247.1:p.Met325Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1234A>G
  hgvsp: ENSP00000400181.2:p.Met412Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1672A>G
  hgvsp: ENSP00000329161.8:p.Met558Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1234A>G
  hgvsp: ENSP00000403194.1:p.Met412Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.973A>G
  hgvsp: ENSP00000466648.1:p.Met325Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.393A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1669A>G
  hgvsp: ENSP00000468406.1:p.Met557Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1390A>G
  hgvsp: ENSP00000415624.1:p.Met464Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1234A>G
  hgvsp: ENSP00000468668.1:p.Met412Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1705A>G
  hgvsp: ENSP00000405877.1:p.Met569Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.973A>G
  hgvsp: ENSP00000438089.2:p.Met325Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1234A>G
  hgvsp: ENSP00000406987.2:p.Met412Val
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5385
  bin: 3.75e1
  variant carriers: 5374
genotype depth: GenotypeDepth
  all individuals: 4434
  bin: 1.25e1
  variant carriers: 4378
genotype depth: GenotypeDepth
  all individuals: 1831
  bin: 7.5e0
  variant carriers: 1727
genotype depth: GenotypeDepth
  all individuals: 7196
  bin: 1.75e1
  variant carriers: 7176
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 6.75e1
  variant carriers: 441
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 7.25e1
  variant carriers: 345
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 2.5e0
  variant carriers: 302
genotype depth: GenotypeDepth
  all individuals: 2359
  bin: 4.75e1
  variant carriers: 2356
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 5.25e1
  variant carriers: 1481
genotype quality: GenotypeQuality
hgvs: p.Met576Val
num of homozygotes: 50761
population: African
population: South Asian
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

17-75494709-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494709
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494709
    reference: chr 17
allele count: 2
allele frequency: 1.796590072043262e-5
allele num: 111322
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.977A>T
  hgvsp: ENSP00000438089.2:p.Glu326Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1730A>T
  hgvsp: ENSP00000391249.1:p.Glu577Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1238A>T
  hgvsp: ENSP00000403194.1:p.Glu413Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.977A>T
  hgvsp: ENSP00000466648.1:p.Glu326Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1673A>T
  hgvsp: ENSP00000468406.1:p.Glu558Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1676A>T
  hgvsp: ENSP00000465464.1:p.Glu559Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.397A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1394A>T
  hgvsp: ENSP00000415624.1:p.Glu465Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1238A>T
  hgvsp: ENSP00000400181.2:p.Glu413Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1709A>T
  hgvsp: ENSP00000405877.1:p.Glu570Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1238A>T
  hgvsp: ENSP00000468668.1:p.Glu413Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1238A>T
  hgvsp: ENSP00000406987.2:p.Glu413Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1058A>T
  hgvsp: ENSP00000468120.1:p.Glu353Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.977A>T
  hgvsp: ENSP00000466247.1:p.Glu326Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1676A>T
  hgvsp: ENSP00000329161.8:p.Glu559Val
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3596
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 897
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7502
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu577Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: A
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS

17-75494720-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494720
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494720
    reference: chr 17
allele count: 1
allele frequency: 9.026085386767758e-6
allele num: 110790
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1249C>T
  hgvsp: ENSP00000468668.1:p.Pro417Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1249C>T
  hgvsp: ENSP00000406987.2:p.Pro417Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1069C>T
  hgvsp: ENSP00000468120.1:p.Pro357Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.988C>T
  hgvsp: ENSP00000466247.1:p.Pro330Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1687C>T
  hgvsp: ENSP00000465464.1:p.Pro563Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.988C>T
  hgvsp: ENSP00000466648.1:p.Pro330Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1720C>T
  hgvsp: ENSP00000405877.1:p.Pro574Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1741C>T
  hgvsp: ENSP00000391249.1:p.Pro581Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.988C>T
  hgvsp: ENSP00000438089.2:p.Pro330Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1684C>T
  hgvsp: ENSP00000468406.1:p.Pro562Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.408C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1249C>T
  hgvsp: ENSP00000403194.1:p.Pro417Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1405C>T
  hgvsp: ENSP00000415624.1:p.Pro469Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1687C>T
  hgvsp: ENSP00000329161.8:p.Pro563Ser
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1249C>T
  hgvsp: ENSP00000400181.2:p.Pro417Ser
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8498
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro581Ser
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

17-75494727-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494727
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494727
    reference: chr 17
allele count: 1
allele frequency: 9.05173974437887e-6
allele num: 110476
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1694C>G
  hgvsp: ENSP00000329161.8:p.Ala565Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1256C>G
  hgvsp: ENSP00000468668.1:p.Ala419Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1256C>G
  hgvsp: ENSP00000403194.1:p.Ala419Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1748C>G
  hgvsp: ENSP00000391249.1:p.Ala583Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1727C>G
  hgvsp: ENSP00000405877.1:p.Ala576Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1076C>G
  hgvsp: ENSP00000468120.1:p.Ala359Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1691C>G
  hgvsp: ENSP00000468406.1:p.Ala564Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.995C>G
  hgvsp: ENSP00000466247.1:p.Ala332Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.995C>G
  hgvsp: ENSP00000438089.2:p.Ala332Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1256C>G
  hgvsp: ENSP00000406987.2:p.Ala419Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.415C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1694C>G
  hgvsp: ENSP00000465464.1:p.Ala565Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1412C>G
  hgvsp: ENSP00000415624.1:p.Ala471Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.995C>G
  hgvsp: ENSP00000466648.1:p.Ala332Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1256C>G
  hgvsp: ENSP00000400181.2:p.Ala419Gly
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3837
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9694
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1083
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala583Gly
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

17-75494730-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494730
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494730
    reference: chr 17
allele count: 2
allele frequency: 1.815738824127537e-5
allele num: 110148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1415C>T
  hgvsp: ENSP00000415624.1:p.Pro472Leu
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1259C>T
  hgvsp: ENSP00000400181.2:p.Pro420Leu
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.418C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1259C>T
  hgvsp: ENSP00000468668.1:p.Pro420Leu
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1751C>T
  hgvsp: ENSP00000391249.1:p.Pro584Leu
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1730C>T
  hgvsp: ENSP00000405877.1:p.Pro577Leu
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1694C>T
  hgvsp: ENSP00000468406.1:p.Pro565Leu
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.998C>T
  hgvsp: ENSP00000466648.1:p.Pro333Leu
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1079C>T
  hgvsp: ENSP00000468120.1:p.Pro360Leu
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1697C>T
  hgvsp: ENSP00000465464.1:p.Pro566Leu
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1259C>T
  hgvsp: ENSP00000406987.2:p.Pro420Leu
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1259C>T
  hgvsp: ENSP00000403194.1:p.Pro420Leu
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.998C>T
  hgvsp: ENSP00000466247.1:p.Pro333Leu
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.998C>T
  hgvsp: ENSP00000438089.2:p.Pro333Leu
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1697C>T
  hgvsp: ENSP00000329161.8:p.Pro566Leu
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7156
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6313
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro584Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

17-75494731-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494731
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494731
    reference: chr 17
allele count: 167
allele frequency: 1.516940684894177e-3
allele num: 110090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1260G>A
  hgvsp: ENST00000427674.2:c.1260G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1698G>A
  hgvsp: ENST00000590294.1:c.1698G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.999G>A
  hgvsp: ENST00000591088.1:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1260G>A
  hgvsp: ENST00000449803.2:c.1260G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1698G>A
  hgvsp: ENST00000329047.8:c.1698G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1416G>A
  hgvsp: ENST00000427180.1:c.1416G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1752G>A
  hgvsp: ENST00000427177.1:c.1752G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.999G>A
  hgvsp: ENST00000592951.1:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1695G>A
  hgvsp: ENST00000591198.1:c.1695G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.999G>A
  hgvsp: ENST00000541152.2:c.999G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1731G>A
  hgvsp: ENST00000423034.2:c.1731G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1260G>A
  hgvsp: ENST00000431235.2:c.1260G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1080G>A
  hgvsp: ENST00000585930.1:c.1080G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1260G>A
  hgvsp: ENST00000588690.1:c.1260G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.419G>A
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9592
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13421
  bin: 2.75e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1676
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8218
  bin: 2.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
hgvs: p.Pro584Pro
num of homozygotes: 1
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

17-75494732-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494732
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494732
    reference: chr 17
allele count: 1
allele frequency: 9.086283346659882e-6
allele num: 110056
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1732G>A
  hgvsp: ENSP00000405877.1:p.Glu578Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1261G>A
  hgvsp: ENSP00000468668.1:p.Glu421Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1696G>A
  hgvsp: ENSP00000468406.1:p.Glu566Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1753G>A
  hgvsp: ENSP00000391249.1:p.Glu585Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1261G>A
  hgvsp: ENSP00000400181.2:p.Glu421Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1081G>A
  hgvsp: ENSP00000468120.1:p.Glu361Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1261G>A
  hgvsp: ENSP00000403194.1:p.Glu421Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1261G>A
  hgvsp: ENSP00000406987.2:p.Glu421Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1699G>A
  hgvsp: ENSP00000465464.1:p.Glu567Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1699G>A
  hgvsp: ENSP00000329161.8:p.Glu567Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.1000G>A
  hgvsp: ENSP00000466247.1:p.Glu334Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.1000G>A
  hgvsp: ENSP00000466648.1:p.Glu334Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1417G>A
  hgvsp: ENSP00000415624.1:p.Glu473Lys
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.420G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.1000G>A
  hgvsp: ENSP00000438089.2:p.Glu334Lys
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu585Lys
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

17-75494733-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494733
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494733
    reference: chr 17
allele count: 7
allele frequency: 6.368267831149927e-5
allele num: 109920
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.1001A>G
  hgvsp: ENSP00000466247.1:p.Glu334Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1262A>G
  hgvsp: ENSP00000400181.2:p.Glu421Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.1001A>G
  hgvsp: ENSP00000438089.2:p.Glu334Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1082A>G
  hgvsp: ENSP00000468120.1:p.Glu361Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1262A>G
  hgvsp: ENSP00000403194.1:p.Glu421Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.1001A>G
  hgvsp: ENSP00000466648.1:p.Glu334Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1700A>G
  hgvsp: ENSP00000329161.8:p.Glu567Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1733A>G
  hgvsp: ENSP00000405877.1:p.Glu578Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1262A>G
  hgvsp: ENSP00000406987.2:p.Glu421Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.421A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1697A>G
  hgvsp: ENSP00000468406.1:p.Glu566Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1262A>G
  hgvsp: ENSP00000468668.1:p.Glu421Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1754A>G
  hgvsp: ENSP00000391249.1:p.Glu585Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1700A>G
  hgvsp: ENSP00000465464.1:p.Glu567Gly
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1418A>G
  hgvsp: ENSP00000415624.1:p.Glu473Gly
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1132
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7286
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12838
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6965
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu585Gly
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

17-75494735-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494735
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494735
    reference: chr 17
allele count: 1
allele frequency: 9.113776384382633e-6
allele num: 109724
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.1702A>G
  hgvsp: ENSP00000465464.1:p.Met568Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.1420A>G
  hgvsp: ENSP00000415624.1:p.Met474Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.1264A>G
  hgvsp: ENSP00000400181.2:p.Met422Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.423A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.1735A>G
  hgvsp: ENSP00000405877.1:p.Met579Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.1699A>G
  hgvsp: ENSP00000468406.1:p.Met567Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.1702A>G
  hgvsp: ENSP00000329161.8:p.Met568Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.1003A>G
  hgvsp: ENSP00000466247.1:p.Met335Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.1264A>G
  hgvsp: ENSP00000406987.2:p.Met422Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.1756A>G
  hgvsp: ENSP00000391249.1:p.Met586Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.1003A>G
  hgvsp: ENSP00000438089.2:p.Met335Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.1003A>G
  hgvsp: ENSP00000466648.1:p.Met335Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.1264A>G
  hgvsp: ENSP00000403194.1:p.Met422Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.1264A>G
  hgvsp: ENSP00000468668.1:p.Met422Val
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.1084A>G
  hgvsp: ENSP00000468120.1:p.Met362Val
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9021
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12315
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Met586Val
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

17-75494742-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494742
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494742
    reference: chr 17
allele count: 27
allele frequency: 2.515043687240345e-4
allele num: 107354
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*2C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*2C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*2C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*2C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*2C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*2C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.430C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*2C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*2C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*2C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*2C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*2C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*2C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*2C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*2C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5877
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9340
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1644
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9648
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4669
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10474
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum

17-75494743-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494743
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494743
    reference: chr 17
allele count: 8
allele frequency: 7.495409061949556e-5
allele num: 106732
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*3G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.431G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*3G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*3G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*3G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*3G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*3G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*3G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*3G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*3G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*3G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*3G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*3G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*3G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*3G>A
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9206
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2799
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9271
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9685
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

17-75494744-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494744
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494744
    reference: chr 17
allele count: 1
allele frequency: 9.46880030300161e-6
allele num: 105610
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*4C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*4C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*4C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*4C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*4C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*4C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.432C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*4C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11014
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9180
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

17-75494745-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494745
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494745
    reference: chr 17
allele count: 12
allele frequency: 1.136191486138464e-4
allele num: 105616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.433C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*5C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*5C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1616
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11024
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8854
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9942
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9177
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2729
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

17-75494746-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494746
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494746
    reference: chr 17
allele count: 55028
allele frequency: 5.266946151342866e-1
allele num: 104478
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*6A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*6A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*6A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*6A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.434A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*6A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*6A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*6A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*6A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*6A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*6A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*6A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*6A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*6A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*6A>G
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10583
  bin: 1.75e1
  variant carriers: 8876
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 7.5e0
  variant carriers: 2912
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 4.25e1
  variant carriers: 1270
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.25e1
  variant carriers: 808
genotype depth: GenotypeDepth
  all individuals: 11408
  bin: 1.25e1
  variant carriers: 6951
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 5.75e1
  variant carriers: 647
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 2.5e0
  variant carriers: 279
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 9.75e1
  variant carriers: 209
genotype depth: GenotypeDepth
  all individuals: 9292
  bin: 2.25e1
  variant carriers: 7932
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.75e1
  variant carriers: 877
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 6.25e1
  variant carriers: 585
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 7.25e1
  variant carriers: 347
genotype quality: GenotypeQuality
num of homozygotes: 15418
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

17-75494749-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494749
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494749
    reference: chr 17
allele count: 1
allele frequency: 1.032716457369465e-5
allele num: 96832
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*9C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*9C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*9C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*9C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*9C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*9C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*9C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*9C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*9C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*9C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*9C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*9C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*9C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*9C>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.437C>G
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4758
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6828
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2084
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2635
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 683
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4470
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ

17-75494754-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494754
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494754
    reference: chr 17
allele count: 1
allele frequency: 1.072110127152261e-5
allele num: 93274
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*14C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*14C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*14C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*14C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*14C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*14C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*14C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*14C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*14C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.442C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*14C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*14C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*14C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*14C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*14C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10035
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20471
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3208
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/17-75494755-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494755
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494755
    reference: chr 17
allele count: 49
allele frequency: 6.08393344921778e-4
allele num: 80540
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*15A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*15A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*15A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*15A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*15A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*15A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*15A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*15A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*15A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.443A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*15A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*15A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*15A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*15A>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*15A>C
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 2.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3024
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3332
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/17-75494756-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494756
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494756
    reference: chr 17
allele count: 1
allele frequency: 1.118193000111819e-5
allele num: 89430
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.444C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*16C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*16C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*16C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*16C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*16C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*16C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*16C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*16C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*16C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*16C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*16C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*16C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*16C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*16C>A
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2837
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10597
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10569
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21131
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/17-75494759-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494759
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494759
    reference: chr 17
allele count: 11
allele frequency: 1.246911061234669e-4
allele num: 88218
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*19C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*19C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*19C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*19C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*19C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*19C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*19C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*19C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*19C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*19C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*19C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*19C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*19C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*19C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.447C>A
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3879
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11045
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11154
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20760
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2578
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

17-75494759-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494759
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494759
    reference: chr 17
allele count: 1
allele frequency: 1.133555510213335e-5
allele num: 88218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*19C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*19C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*19C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*19C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.447C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*19C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*19C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*19C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3550
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2532
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/17-75494760-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494760
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494760
    reference: chr 17
allele count: 6
allele frequency: 6.928726500069287e-5
allele num: 86596
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*20C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*20C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*20C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*20C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*20C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*20C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.448C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*20C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*20C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*20C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*20C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*20C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*20C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*20C>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*20C>A
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11535
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2673
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11551
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

17-75494760-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494760
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494760
    reference: chr 17
allele count: 30
allele frequency: 3.464363250034643e-4
allele num: 86596
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*20C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*20C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*20C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*20C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*20C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*20C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.448C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*20C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 11551
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11535
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3938
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1088
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum

17-75494761-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494761
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494761
    reference: chr 17
allele count: 4
allele frequency: 4.744508231721782e-5
allele num: 84308
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*21G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*21G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*21G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*21G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*21G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*21G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*21G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*21G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*21G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*21G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*21G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*21G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*21G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.449G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*21G>A
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2713
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11760
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11451
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2224
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1081
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

17-75494764-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494764
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494764
    reference: chr 17
allele count: 15
allele frequency: 1.779317216673389e-4
allele num: 84302
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*24A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*24A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*24A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*24A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*24A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*24A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*24A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*24A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*24A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*24A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*24A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*24A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*24A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.452A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*24A>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19767
  bin: 1.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum

17-75494764-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494764
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494764
    reference: chr 17
allele count: 1
allele frequency: 1.186211477782259e-5
allele num: 84302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*24A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*24A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*24A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.452A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*24A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*24A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*24A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*24A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*24A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*24A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*24A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*24A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*24A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*24A>G
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*24A>G
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12644
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19767
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

17-75494769-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494769
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494769
    reference: chr 17
allele count: 3
allele frequency: 4.144104320919439e-5
allele num: 72392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*29G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.457G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*29G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*29G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*29G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*29G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*29G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*29G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*29G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*29G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*29G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*29G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*29G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*29G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*29G>A
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17041
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1130
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3888
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

17-75494770-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494770
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494770
    reference: chr 17
allele count: 2
allele frequency: 2.947418061777883e-5
allele num: 67856
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*30C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.458C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*30C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*30C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*30C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*30C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*30C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*30C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*30C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*30C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*30C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*30C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*30C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*30C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*30C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16291
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11080
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: BaseQRankSum

17-75494780-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494780
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494780
    reference: chr 17
allele count: 8500
allele frequency: 3.395653563438799e-1
allele num: 25032
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*40A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*40A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*40A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*40A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*40A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.468A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*40A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*40A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*40A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*40A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*40A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*40A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*40A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*40A>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*40A>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1723
  bin: 2.5e0
  variant carriers: 430
genotype depth: GenotypeDepth
  all individuals: 2966
  bin: 2.25e1
  variant carriers: 786
genotype depth: GenotypeDepth
  all individuals: 1642
  bin: 2.75e1
  variant carriers: 417
genotype depth: GenotypeDepth
  all individuals: 949
  bin: 3.75e1
  variant carriers: 260
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 14379
  bin: 1.25e1
  variant carriers: 3612
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.75e1
  variant carriers: 98
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.25e1
  variant carriers: 347
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 56
genotype quality: GenotypeQuality
num of homozygotes: 769
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS

17-75494785-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494785
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494786
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 5080
alternate allele: CG
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*46dupG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*46dupG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*46dupG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*46dupG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*46dupG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*46dupG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*46dupG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*46dupG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*46dupG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*46dupG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*46dupG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*46dupG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*46dupG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*46dupG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.474dupG
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4437
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

17-75494785-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494785
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494785
    reference: chr 17
allele count: 1
allele frequency: 1.968503937007874e-4
allele num: 5080
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*45C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*45C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*45C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*45C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*45C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.473C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*45C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*45C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*45C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*45C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*45C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*45C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*45C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*45C>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*45C>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 829
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2385
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

17-75494786-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494786
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494786
    reference: chr 17
allele count: 13
allele frequency: 6.799163179916318e-3
allele num: 1912
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*46G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*46G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*46G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*46G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.474G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*46G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*46G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*46G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*46G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*46G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*46G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*46G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*46G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*46G>A
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*46G>A
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum

17-75494786-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494786
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494787
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 1912
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*46_*47insC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*46_*47insC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*46_*47insC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*46_*47insC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*46_*47insC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*46_*47insC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*46_*47insC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*46_*47insC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*46_*47insC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*46_*47insC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.474_475insC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*46_*47insC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*46_*47insC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*46_*47insC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*46_*47insC
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1063
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

17-75494786-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494786
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494786
    reference: chr 17
allele count: 1
allele frequency: 5.230125523012552e-4
allele num: 1912
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*46G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*46G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*46G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*46G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*46G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*46G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*46G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*46G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*46G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*46G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*46G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*46G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.474G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*46G>T
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*46G>T
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD

17-75494787-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494787
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494788
    reference: chr 17
allele count: 19062
allele frequency: 9.066780821917808e-1
allele num: 21024
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*55dupC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*55dupC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*55dupC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.483dupC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*55dupC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*55dupC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*55dupC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*55dupC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*55dupC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*55dupC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*55dupC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*55dupC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*55dupC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*55dupC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*55dupC
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 130
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 1.75e1
  variant carriers: 2335
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 2.25e1
  variant carriers: 1575
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7116
  bin: 1.25e1
  variant carriers: 6711
genotype depth: GenotypeDepth
  all individuals: 22877
  bin: 7.5e0
  variant carriers: 21431
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 2.75e1
  variant carriers: 1134
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.25e1
  variant carriers: 627
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 43
genotype quality: GenotypeQuality
num of homozygotes: 8612
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

17-75494787-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494787
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494787
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 21024
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*47T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*47T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*47T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*47T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*47T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*47T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*47T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*47T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*47T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.475T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*47T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*47T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*47T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*47T>C
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*47T>C
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11210
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

17-75494787-T-TCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494787
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494789
    reference: chr 17
allele count: 263
allele frequency: 1.250951293759513e-2
allele num: 21024
alternate allele: TCC
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*54_*55dupCC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*54_*55dupCC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*54_*55dupCC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*54_*55dupCC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*54_*55dupCC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*54_*55dupCC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*54_*55dupCC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*54_*55dupCC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*54_*55dupCC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*54_*55dupCC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*54_*55dupCC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*54_*55dupCC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*54_*55dupCC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*54_*55dupCC
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.482_483dupCC
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 1.75e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 2.25e1
  variant carriers: 84
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 7116
  bin: 1.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 2.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 11210
  bin: 2.5e0
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 1
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

17-75494787-T-TG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494787
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494788
    reference: chr 17
allele count: 2
allele frequency: 9.512937595129375e-5
allele num: 21024
alternate allele: TG
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000406987
  ensembl transcript: ENST00000431235
  gene symbol: SEPT9
  hgvsc: ENST00000431235.2:c.*47_*48insG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*47_*48insG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000465464
  ensembl transcript: ENST00000590294
  gene symbol: SEPT9
  hgvsc: ENST00000590294.1:c.*47_*48insG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000403194
  ensembl transcript: ENST00000427674
  gene symbol: SEPT9
  hgvsc: ENST00000427674.2:c.*47_*48insG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000405877
  ensembl transcript: ENST00000423034
  gene symbol: SEPT9
  hgvsc: ENST00000423034.2:c.*47_*48insG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000391249
  ensembl transcript: ENST00000427177
  gene symbol: SEPT9
  hgvsc: ENST00000427177.1:c.*47_*48insG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000400181
  ensembl transcript: ENST00000449803
  gene symbol: SEPT9
  hgvsc: ENST00000449803.2:c.*47_*48insG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466648
  ensembl transcript: ENST00000592951
  gene symbol: SEPT9
  hgvsc: ENST00000592951.1:c.*47_*48insG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000329161
  ensembl transcript: ENST00000329047
  gene symbol: SEPT9
  hgvsc: ENST00000329047.8:c.*47_*48insG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000438089
  ensembl transcript: ENST00000541152
  gene symbol: SEPT9
  hgvsc: ENST00000541152.2:c.*47_*48insG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000184640
  ensembl transcript: ENST00000589246
  gene symbol: SEPT9
  hgvsc: ENST00000589246.1:n.475_476insG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*47_*48insG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468406
  ensembl transcript: ENST00000591198
  gene symbol: SEPT9
  hgvsc: ENST00000591198.1:c.*47_*48insG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*47_*48insG
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000466247
  ensembl transcript: ENST00000591088
  gene symbol: SEPT9
  hgvsc: ENST00000591088.1:c.*47_*48insG
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22877
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7116
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/17-75494788-C-CA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 75494788
    reference: chr 17
  end: Position
    type: ExactPosition
    position: 75494789
    reference: chr 17
allele count: 0
allele frequency: 0.0e0
allele num: 100
alternate allele: CA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000415624
  ensembl transcript: ENST00000427180
  gene symbol: SEPT9
  hgvsc: ENST00000427180.1:c.*48_*49insA
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468120
  ensembl transcript: ENST00000585930
  gene symbol: SEPT9
  hgvsc: ENST00000585930.1:c.*48_*49insA
  variant of: http://identifiers.org/hgnc/7323
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000184640
  ensembl protein: ENSP00000468668
  ensembl transcript: ENST00000588690
  gene symbol: SEPT9
  hgvsc: ENST00000588690.1:c.*48_*49insA
  variant of: http://identifiers.org/hgnc/7323
canonical: true
consequence: 3' UTR
filter: AC_Adj0
num of homozygotes: 0
reference allele: C

GenotypeDepth
all individuals: 17
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1246
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1097
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 535
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 904
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 96
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2102
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1460
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3237
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1266
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30355
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 2183
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4113
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 710
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 698
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1193
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
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allele frequency: 1.328021248339973e-4
allele num: 7530
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 554
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

MQ
type: SiteQuality
SIO_000300: 5.753e1

VQSLOD
type: SiteQuality
SIO_000300: 3.35e-1

FS
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SIO_000300: 4.89e0

ClippingRankSum
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MQRankSum
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BaseQRankSum
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QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.8e-1

InbreedingCoeff
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SIO_000300: 6.39e-2

DP
type: SiteQuality
SIO_000300: 4.61111e5

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.328021248339973e-4
allele num: 7530
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7768
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 112
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1826
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 166
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.89e0

MQ
type: SiteQuality
SIO_000300: 5.753e1

QD
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SIO_000300: 1.806e1

VQSLOD
type: SiteQuality
SIO_000300: 3.35e-1

ReadPosRankSum
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SIO_000300: -3.8e-1

MQRankSum
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SIO_000300: 1.72e-1

BaseQRankSum
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SIO_000300: -7.36e-1

InbreedingCoeff
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SIO_000300: 6.39e-2

ClippingRankSum
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SIO_000300: 1.94e-1

DP
type: SiteQuality
SIO_000300: 4.61111e5

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 384
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.245382585751979e-4
allele num: 6064
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 7.8125e-3
allele num: 128
num of homozygotes: 0

South Asian
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allele count: 10
allele frequency: 1.594896331738437e-3
allele num: 6270
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 1.928020565552699e-3
allele num: 1556
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.5464e1

DP
type: SiteQuality
SIO_000300: 4.97834e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.89e-1

VQSLOD
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SIO_000300: -3.405e0

BaseQRankSum
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SIO_000300: -2.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.071e-1

MQ
type: SiteQuality
SIO_000300: 5.739e1

QD
type: SiteQuality
SIO_000300: 1.65e0

GenotypeDepth
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bin: 2.5e0
variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7854
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1940
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 174
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 362
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.899999999999999e-1

BaseQRankSum
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SIO_000300: -8.59e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.263e0

ClippingRankSum
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SIO_000300: 2.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.23e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.067e0

DP
type: SiteQuality
SIO_000300: 5.167e5

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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South Asian
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allele count: 1
allele frequency: 1.262307498106539e-4
allele num: 7922
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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FS
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MQ
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.97e-2

ClippingRankSum
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4.492362982929021e-4
allele num: 2226
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

South Asian
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num of homozygotes: 0

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

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

MQ
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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QD
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

Other
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allele count: 0
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European (Non-Finnish)
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allele num: 16002
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

Latino
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East Asian
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Other
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African
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European (Non-Finnish)
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num of homozygotes: 0

European (Finnish)
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DP
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MQRankSum
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FS
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ClippingRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 7.032348804500703e-5
allele num: 28440
num of homozygotes: 0

QD
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MQ
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SIO_000300: 5.903e1

BaseQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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InbreedingCoeff
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FS
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SIO_000300: 5.377e0

MQRankSum
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ClippingRankSum
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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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East Asian
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Other
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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South Asian
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FS
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SIO_000300: 1.043e1

BaseQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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MQRankSum
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DP
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ClippingRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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East Asian
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African
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South Asian
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European (Non-Finnish)
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Other
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MQRankSum
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FS
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VQSLOD
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QD
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BaseQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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DP
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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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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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East Asian
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South Asian
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European (Finnish)
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European (Non-Finnish)
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InbreedingCoeff
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FS
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MQRankSum
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MQ
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ClippingRankSum
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QD
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BaseQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 2.269941435510964e-5
allele num: 44054
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6270
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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6068
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5304
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.566e0

DP
type: SiteQuality
SIO_000300: 1.128015e6

MQ
type: SiteQuality
SIO_000300: 5.935e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.758e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.16e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

QD
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SIO_000300: 1.359e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 2

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 8

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.994327246942031e-4
allele num: 45128
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2950
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6392
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

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-3

MQ
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SIO_000300: 5.841e1

DP
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SIO_000300: 1.145435e6

ReadPosRankSum
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SIO_000300: -2.77e-1

QD
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BaseQRankSum
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SIO_000300: 3.56e-1

MQRankSum
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SIO_000300: 6.78e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -8.964e-1

ClippingRankSum
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SIO_000300: 2.89e-1

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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bin: 3.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7366
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6088
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3272
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.643115346697338e-4
allele num: 12172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.34e0

VQSLOD
type: SiteQuality
SIO_000300: -5.737e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

FS
type: SiteQuality
SIO_000300: 4.607e0

MQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.88e-1

DP
type: SiteQuality
SIO_000300: 1.205406e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

GenotypeDepth
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bin: 2.75e1
variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.040899628556268e-5
allele num: 48998
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12172
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3272
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7366
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.463271875914545e-4
allele num: 6834
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6088
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.737e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.895e1

QD
type: SiteQuality
SIO_000300: 9.34e0

MQRankSum
type: SiteQuality
SIO_000300: -2.07e-1

BaseQRankSum
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SIO_000300: -9.88e-1

DP
type: SiteQuality
SIO_000300: 1.205406e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.6e-3

FS
type: SiteQuality
SIO_000300: 4.607e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.2e-1

GenotypeDepth
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bin: 1.25e1
variant carriers: 5

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6892
num of homozygotes: 0

European (Non-Finnish)
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allele count: 27
allele frequency: 5.450581395348837e-4
allele num: 49536
num of homozygotes: 0

European (Finnish)
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allele count: 4
allele frequency: 1.205545509342978e-3
allele num: 3318
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
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FS
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SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -2.3e-3

VQSLOD
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MQ
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SIO_000300: 5.844e1

QD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
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African
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allele count: 2
allele frequency: 2.728512960436562e-4
allele num: 7330
num of homozygotes: 0

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

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

Other
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South Asian
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African
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European (Non-Finnish)
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allele count: 2
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allele num: 53732
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MQRankSum
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ReadPosRankSum
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DP
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ClippingRankSum
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FS
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MQ
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VQSLOD
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InbreedingCoeff
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 54740
num of homozygotes: 0

South Asian
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East Asian
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Latino
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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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InbreedingCoeff
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DP
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QD
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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Other
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African
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South Asian
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East Asian
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MQRankSum
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FS
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BaseQRankSum
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QD
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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East Asian
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Latino
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African
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ReadPosRankSum
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MQRankSum
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VQSLOD
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FS
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MQ
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DP
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QD
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.920924921495861e-5
allele num: 56048
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.347538574577516e-5
allele num: 13610
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 1.428571428571429e-3
allele num: 4200
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7042
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9122
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.333091e6

MQ
type: SiteQuality
SIO_000300: 5.828e1

VQSLOD
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SIO_000300: -7.16e-1

BaseQRankSum
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SIO_000300: 8.500000000000001e-2

QD
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SIO_000300: 1.1e1

ReadPosRankSum
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SIO_000300: -2.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.54e-1

FS
type: SiteQuality
SIO_000300: 8.454000000000001e0

GenotypeDepth
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bin: 2.5e0
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4264
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7074
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7842
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.774685880599134e-5
allele num: 56348
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 9218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13660
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

DP
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SIO_000300: 1.341307e6

MQRankSum
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SIO_000300: -5.6e-2

InbreedingCoeff
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SIO_000300: 3.0e-3

ClippingRankSum
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SIO_000300: -2.41e-1

FS
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SIO_000300: 5.043e0

QD
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SIO_000300: 1.542e1

BaseQRankSum
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SIO_000300: -1.123e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.873e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7842
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4264
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.413627367825841e-4
allele num: 7074
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.08483402039488e-4
allele num: 9218
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13660
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

ClippingRankSum
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SIO_000300: -2.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

FS
type: SiteQuality
SIO_000300: 5.043e0

QD
type: SiteQuality
SIO_000300: 1.542e1

MQ
type: SiteQuality
SIO_000300: 5.873e1

MQRankSum
type: SiteQuality
SIO_000300: -5.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.123e0

DP
type: SiteQuality
SIO_000300: 1.341307e6

GenotypeDepth
all individuals: 7287
bin: 3.25e1
variant carriers: 7262

GenotypeDepth
all individuals: 332
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variant carriers: 332

GenotypeDepth
all individuals: 3729
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variant carriers: 3725

GenotypeDepth
all individuals: 8523
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variant carriers: 8461

GenotypeDepth
all individuals: 8719
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variant carriers: 8497

GenotypeDepth
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variant carriers: 345

GenotypeDepth
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variant carriers: 556

GenotypeDepth
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variant carriers: 312

GenotypeDepth
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variant carriers: 387

GenotypeDepth
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variant carriers: 936

GenotypeDepth
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variant carriers: 5124

GenotypeQuality
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variant carriers: 28549

GenotypeQuality
all individuals: 1646
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variant carriers: 1630

GenotypeQuality
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variant carriers: 1105

GenotypeQuality
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GenotypeQuality
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variant carriers: 1473

GenotypeQuality
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variant carriers: 50

GenotypeQuality
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variant carriers: 1491

GenotypeQuality
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variant carriers: 2768

GenotypeQuality
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variant carriers: 3043

GenotypeQuality
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variant carriers: 1759

GenotypeQuality
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variant carriers: 2665

GenotypeQuality
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variant carriers: 195

GenotypeQuality
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variant carriers: 3113

GenotypeQuality
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variant carriers: 197

GenotypeQuality
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variant carriers: 1316

GenotypeQuality
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variant carriers: 484

GenotypeQuality
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variant carriers: 537

GenotypeQuality
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variant carriers: 785

GenotypeQuality
all individuals: 3040
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variant carriers: 3039

GenotypeQuality
all individuals: 3212
bin: 6.25e1
variant carriers: 2967

African
type: Population
allele count: 7077
allele frequency: 7.768386388583973e-1
allele num: 9110
num of homozygotes: 2740

South Asian
type: Population
allele count: 15527
allele frequency: 9.717736888221304e-1
allele num: 15978
num of homozygotes: 7545

East Asian
type: Population
allele count: 8339
allele frequency: 9.991612748622094e-1
allele num: 8346
num of homozygotes: 4166

Other
type: Population
allele count: 798
allele frequency: 9.5e-1
allele num: 840
num of homozygotes: 378

Latino
type: Population
allele count: 10864
allele frequency: 9.713876967095851e-1
allele num: 11184
num of homozygotes: 5275

European (Finnish)
type: Population
allele count: 5534
allele frequency: 9.217188540972685e-1
allele num: 6004
num of homozygotes: 2548

European (Non-Finnish)
type: Population
allele count: 59928
allele frequency: 9.385159896012779e-1
allele num: 63854
num of homozygotes: 28109

DP
type: SiteQuality
SIO_000300: 2.342673e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

QD
type: SiteQuality
SIO_000300: 2.924e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.12e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.14e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e0

FS
type: SiteQuality
SIO_000300: 5.26e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.09e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 1
allele frequency: 1.230920728705071e-4
allele num: 8124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15408
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5398
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.160864785635764e-5
allele num: 10916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8658
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.876e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.15e-1

InbreedingCoeff
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SIO_000300: -3.0e-3

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.6113e6

BaseQRankSum
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SIO_000300: 4.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.15e-1

MQ
type: SiteQuality
SIO_000300: 5.78e1

FS
type: SiteQuality
SIO_000300: 2.155e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1276
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61780
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 776
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15364
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.201324990798675e-5
allele num: 10868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5316
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.325e0

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -7.8e-2

QD
type: SiteQuality
SIO_000300: 7.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.8e-1

MQ
type: SiteQuality
SIO_000300: 5.878e1

ClippingRankSum
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SIO_000300: 7.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.455e0

DP
type: SiteQuality
SIO_000300: 1.593409e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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bin: 1.25e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15346
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10864
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.237011380504701e-4
allele num: 8084
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5272
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.782e0

BaseQRankSum
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SIO_000300: -7.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.3e-2

DP
type: SiteQuality
SIO_000300: 1.569881e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.852e1

QD
type: SiteQuality
SIO_000300: 6.8e0

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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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
all individuals: 4683
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10850
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5238
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.257010715565254e-5
allele num: 61406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.213e0

MQ
type: SiteQuality
SIO_000300: 5.871e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

FS
type: SiteQuality
SIO_000300: 1.801e0

VQSLOD
type: SiteQuality
SIO_000300: -7.914e-1

QD
type: SiteQuality
SIO_000300: 1.105e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.57e-1

DP
type: SiteQuality
SIO_000300: 1.556653e6

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 23

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 13

GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 24

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 7

GenotypeDepth
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 158

GenotypeQuality
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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: 1

GenotypeQuality
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variant carriers: 1

Other
type: Population
allele count: 2
allele frequency: 2.617801047120419e-3
allele num: 764
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.606596646397642e-4
allele num: 10854
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 135
allele frequency: 2.200058668231153e-3
allele num: 61362
num of homozygotes: 1

African
type: Population
allele count: 4
allele frequency: 4.698144233027954e-4
allele num: 8514
num of homozygotes: 0

South Asian
type: Population
allele count: 12
allele frequency: 7.844162635638645e-4
allele num: 15298
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8064
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.719526175009553e-3
allele num: 5234
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.903e1

MQRankSum
type: SiteQuality
SIO_000300: 3.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

DP
type: SiteQuality
SIO_000300: 1.550451e6

QD
type: SiteQuality
SIO_000300: 1.324e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.44e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.08e0

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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.629885582032141e-5
allele num: 61354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15290
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.937e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.93e-1

DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

FS
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.147e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.35e-1

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

South Asian
type: Population
allele count: 7
allele frequency: 4.582951420714941e-4
allele num: 15274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8066
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10832
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5224
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.979e1

FS
type: SiteQuality
SIO_000300: 1.202e0

ClippingRankSum
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SIO_000300: -9.02e-1

DP
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

QD
type: SiteQuality
SIO_000300: 1.344e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

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
all individuals: 484
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GenotypeQuality
all individuals: 4619
bin: 9.75e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5194
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10816
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.242544731610338e-4
allele num: 8048
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.82e-1

ReadPosRankSum
type: SiteQuality
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FS
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SIO_000300: 0.0e0

DP
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MQRankSum
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SIO_000300: 9.61e-1

VQSLOD
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QD
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MQ
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.75e1
variant carriers: 1

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4940
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8288
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.88821752265861e-4
allele num: 10592
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.337434800053497e-4
allele num: 14954
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 740
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 23
allele frequency: 3.832694550908182e-4
allele num: 60010
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

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

InbreedingCoeff
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FS
type: SiteQuality
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VQSLOD
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SIO_000300: 1.07e0

MQRankSum
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SIO_000300: 1.67e-1

ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 1.473739e6

MQ
type: SiteQuality
SIO_000300: 5.883e1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8

GenotypeQuality
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GenotypeQuality
all individuals: 1205
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4892
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8246
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59750
num of homozygotes: 0

East Asian
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allele count: 8
allele frequency: 1.029866117404737e-3
allele num: 7768
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.17e0

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

FS
type: SiteQuality
SIO_000300: 4.671e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.83e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.322e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.581e0

DP
type: SiteQuality
SIO_000300: 1.467454e6

MQ
type: SiteQuality
SIO_000300: 5.876e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-2

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4614
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10420
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8124
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14710
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.690274162469152e-5
allele num: 59162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7686
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4778
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.4e-1

QD
type: SiteQuality
SIO_000300: 9.33e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.28e-1

MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.315e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.149e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

MQ
type: SiteQuality
SIO_000300: 5.883e1

DP
type: SiteQuality
SIO_000300: 1.452305e6

GenotypeDepth
all individuals: 136
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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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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 (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.352539392709813e-4
allele num: 59148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7688
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 2.089427496865859e-4
allele num: 4786
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10426
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.79532481652623e-5
allele num: 14716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 730
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.462447672986949e-4
allele num: 8122
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.452248e6

VQSLOD
type: SiteQuality
SIO_000300: 1.8e-2

InbreedingCoeff
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

QD
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MQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.12e-1

GenotypeDepth
all individuals: 8485
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variant carriers: 5516

GenotypeDepth
all individuals: 2580
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GenotypeDepth
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GenotypeDepth
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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: 689

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
type: Population
allele count: 6945
allele frequency: 8.998445193055196e-1
allele num: 7718
num of homozygotes: 3119

European (Non-Finnish)
type: Population
allele count: 25864
allele frequency: 4.438800027459326e-1
allele num: 58268
num of homozygotes: 5466

Other
type: Population
allele count: 388
allele frequency: 5.315068493150685e-1
allele num: 730
num of homozygotes: 99

Latino
type: Population
allele count: 7574
allele frequency: 7.36913796458455e-1
allele num: 10278
num of homozygotes: 2818

African
type: Population
allele count: 2606
allele frequency: 3.263210618582519e-1
allele num: 7986
num of homozygotes: 412

South Asian
type: Population
allele count: 9379
allele frequency: 6.320080862533692e-1
allele num: 14840
num of homozygotes: 2977

European (Finnish)
type: Population
allele count: 2272
allele frequency: 4.877629884070416e-1
allele num: 4658
num of homozygotes: 527

VQSLOD
type: SiteQuality
SIO_000300: 2.49e0

MQRankSum
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SIO_000300: 9.3e-2

ReadPosRankSum
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MQ
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.077e-1

FS
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

QD
type: SiteQuality
SIO_000300: 1.931e1

DP
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SIO_000300: 1.410181e6

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 199
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 660
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3984
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.819438885047851e-5
allele num: 54962
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
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South Asian
type: Population
allele count: 0
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Latino
type: Population
allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
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SIO_000300: 1.098678e6

MQRankSum
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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FS
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BaseQRankSum
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 53174
num of homozygotes: 0

East Asian
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allele frequency: 1.535626535626536e-4
allele num: 6512
num of homozygotes: 0

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

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

South 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

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

MQ
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SIO_000300: 5.991e1

InbreedingCoeff
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SIO_000300: -1.27e-2

ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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FS
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QD
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VQSLOD
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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: 1
allele frequency: 3.491620111731844e-4
allele num: 2864
num of homozygotes: 0

East Asian
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allele count: 4
allele frequency: 7.243752263672582e-4
allele num: 5522
num of homozygotes: 0

African
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allele count: 5
allele frequency: 7.854225573358467e-4
allele num: 6366
num of homozygotes: 0

Latino
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allele count: 4
allele frequency: 5.458515283842794e-4
allele num: 7328
num of homozygotes: 0

South Asian
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allele count: 3
allele frequency: 2.495425054067543e-4
allele num: 12022
num of homozygotes: 0

European (Non-Finnish)
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allele count: 32
allele frequency: 6.972285166463308e-4
allele num: 45896
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

QD
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SIO_000300: 4.5e-1

VQSLOD
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ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQ
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SIO_000300: 5.888e1

DP
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SIO_000300: 9.85319e5

FS
type: SiteQuality
SIO_000300: 1.03192e2

MQRankSum
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SIO_000300: 2.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.32e-2

GenotypeDepth
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variant carriers: 1

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3362
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.957943376277558e-5
allele num: 51074
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -1.291e0

InbreedingCoeff
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SIO_000300: -1.71e-2

ClippingRankSum
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VQSLOD
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DP
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MQ
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SIO_000300: 5.765e1

ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 9.01e-1

QD
type: SiteQuality
SIO_000300: 1.861e1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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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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East Asian
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allele frequency: 1.606683804627249e-4
allele num: 6224
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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African
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South Asian
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allele frequency: 7.906388361796331e-4
allele num: 12648
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ReadPosRankSum
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QD
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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InbreedingCoeff
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FS
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MQ
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6224
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3300
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Latino
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allele num: 8274
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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South Asian
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ReadPosRankSum
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FS
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ClippingRankSum
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MQRankSum
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QD
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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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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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
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num of homozygotes: 0

East Asian
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allele count: 2
allele frequency: 3.272251308900524e-4
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African
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allele count: 1
allele frequency: 1.490757304710793e-4
allele num: 6708
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 4.044162251789541e-5
allele num: 49454
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European (Finnish)
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Latino
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Other
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ReadPosRankSum
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FS
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DP
type: SiteQuality
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InbreedingCoeff
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QD
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MQRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
all individuals: 105
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 129
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 24
allele frequency: 3.577817531305903e-3
allele num: 6708
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3194
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6112
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.76678445229682e-3
allele num: 566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12460
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.234263144902493e-4
allele num: 8102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.088324503579083e-5
allele num: 49454
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.7e0

DP
type: SiteQuality
SIO_000300: 9.24449e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.76e-2

MQ
type: SiteQuality
SIO_000300: 5.993e1

MQRankSum
type: SiteQuality
SIO_000300: 4.42e-1

QD
type: SiteQuality
SIO_000300: 1.444e1

FS
type: SiteQuality
SIO_000300: 8.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 8306
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7808
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3034
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 6.225357958082589e-5
allele num: 48190
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.18464560484531e-5
allele num: 12218
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.43e-2

DP
type: SiteQuality
SIO_000300: 9.18544e5

FS
type: SiteQuality
SIO_000300: 4.284e0

VQSLOD
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SIO_000300: -1.728e0

MQ
type: SiteQuality
SIO_000300: 5.777e1

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-2

QD
type: SiteQuality
SIO_000300: 9.34e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.37e-1

GenotypeDepth
all individuals: 11582
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variant carriers: 5

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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
all individuals: 14
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 13

GenotypeQuality
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GenotypeQuality
all individuals: 272
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GenotypeQuality
all individuals: 108
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GenotypeQuality
all individuals: 2347
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variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 329
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variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 2.557544757033248e-4
allele num: 7820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.148000663680106e-5
allele num: 48216
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.687634243633016e-3
allele num: 6518
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3020
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12220
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.25e-1

QD
type: SiteQuality
SIO_000300: 1.19e1

DP
type: SiteQuality
SIO_000300: 8.96741e5

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.04e-2

MQ
type: SiteQuality
SIO_000300: 5.871e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

GenotypeDepth
all individuals: 640
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11582
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variant carriers: 0

GenotypeDepth
all individuals: 1476
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GenotypeDepth
all individuals: 18
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
all individuals: 4
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GenotypeDepth
all individuals: 4
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GenotypeDepth
all individuals: 9
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GenotypeQuality
all individuals: 272
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GenotypeQuality
all individuals: 26
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GenotypeQuality
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GenotypeQuality
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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: 21
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variant carriers: 1

GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 329
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GenotypeQuality
all individuals: 194
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GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 458
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1279
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5958
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48216
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.183306055646482e-5
allele num: 12220
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3020
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

QD
type: SiteQuality
SIO_000300: 1.19e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.04e-2

MQ
type: SiteQuality
SIO_000300: 5.871e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.25e-1

DP
type: SiteQuality
SIO_000300: 8.96741e5

GenotypeDepth
all individuals: 1858
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 922
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variant carriers: 0

GenotypeDepth
all individuals: 32
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 312
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GenotypeDepth
all individuals: 4
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GenotypeDepth
all individuals: 598
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 15
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GenotypeQuality
all individuals: 152
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GenotypeQuality
all individuals: 490
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GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 472
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 8.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 41572
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 2.721829069134459e-4
allele num: 11022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4876
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 472
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.166e0

FS
type: SiteQuality
SIO_000300: 1.7631e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.64e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.137e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.7e-1

DP
type: SiteQuality
SIO_000300: 8.52125e5

MQ
type: SiteQuality
SIO_000300: 5.734e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 9.27e0

GenotypeDepth
all individuals: 14
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
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variant carriers: 0

GenotypeDepth
all individuals: 855
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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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GenotypeQuality
all individuals: 2725
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 15
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GenotypeQuality
all individuals: 4
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2110
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4372
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.11352014726938e-5
allele num: 39112
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.46e-1

ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.558e0

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.01e-2

MQRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 5.855e1

QD
type: SiteQuality
SIO_000300: 2.185e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

GenotypeDepth
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bin: 1.75e1
variant carriers: 1963

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 23
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GenotypeDepth
all individuals: 92
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variant carriers: 30

GenotypeDepth
all individuals: 3
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GenotypeQuality
all individuals: 224
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GenotypeQuality
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GenotypeQuality
all individuals: 24067
bin: 7.5e0
variant carriers: 166

GenotypeQuality
all individuals: 4189
bin: 2.25e1
variant carriers: 334

GenotypeQuality
all individuals: 1590
bin: 2.5e0
variant carriers: 41

GenotypeQuality
all individuals: 199
bin: 5.75e1
variant carriers: 198

GenotypeQuality
all individuals: 205
bin: 7.25e1
variant carriers: 200

GenotypeQuality
all individuals: 183
bin: 4.25e1
variant carriers: 156

GenotypeQuality
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bin: 1.25e1
variant carriers: 181

GenotypeQuality
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variant carriers: 209

GenotypeQuality
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variant carriers: 269

GenotypeQuality
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variant carriers: 155

GenotypeQuality
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variant carriers: 328

GenotypeQuality
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GenotypeQuality
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variant carriers: 356

GenotypeQuality
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GenotypeQuality
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variant carriers: 6863

GenotypeQuality
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variant carriers: 332

GenotypeQuality
all individuals: 593
bin: 2.75e1
variant carriers: 173

GenotypeQuality
all individuals: 289
bin: 3.75e1
variant carriers: 198

Other
type: Population
allele count: 64
allele frequency: 3.440860215053764e-1
allele num: 186
num of homozygotes: 6

Latino
type: Population
allele count: 498
allele frequency: 3.755656108597285e-1
allele num: 1326
num of homozygotes: 29

East Asian
type: Population
allele count: 1081
allele frequency: 4.976979742173112e-1
allele num: 2172
num of homozygotes: 111

South Asian
type: Population
allele count: 1407
allele frequency: 2.515194851626743e-1
allele num: 5594
num of homozygotes: 117

African
type: Population
allele count: 1986
allele frequency: 5.209863588667366e-1
allele num: 3812
num of homozygotes: 359

European (Finnish)
type: Population
allele count: 136
allele frequency: 3.177570093457944e-1
allele num: 428
num of homozygotes: 5

European (Non-Finnish)
type: Population
allele count: 3328
allele frequency: 2.890394302588153e-1
allele num: 11514
num of homozygotes: 142

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.27e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
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SIO_000300: 7.15709e5

MQ
type: SiteQuality
SIO_000300: 5.913e1

QD
type: SiteQuality
SIO_000300: 1.589e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.01e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 7
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
all individuals: 90
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GenotypeDepth
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GenotypeQuality
all individuals: 12
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2942
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.18582e5

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.14e-2

MQ
type: SiteQuality
SIO_000300: 6.09e1

FS
type: SiteQuality
SIO_000300: 2.4078e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.085e-1

QD
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SIO_000300: 9.9e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
all individuals: 15
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GenotypeQuality
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GenotypeQuality
all individuals: 3
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GenotypeQuality
all individuals: 120
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variant carriers: 0

GenotypeQuality
all individuals: 7421
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 46
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 212
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variant carriers: 0

GenotypeQuality
all individuals: 392
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2942
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 348
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.666666666666667e-3
allele num: 600
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 230
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.51e-1

FS
type: SiteQuality
SIO_000300: 2.4078e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.14e-2

MQ
type: SiteQuality
SIO_000300: 6.09e1

DP
type: SiteQuality
SIO_000300: 6.18582e5

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.085e-1

QD
type: SiteQuality
SIO_000300: 9.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.84e-1

GenotypeDepth
all individuals: 29
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 701
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variant carriers: 1

GenotypeDepth
all individuals: 1997
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variant carriers: 1

GenotypeDepth
all individuals: 9
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GenotypeDepth
all individuals: 468
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GenotypeDepth
all individuals: 4
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GenotypeDepth
all individuals: 2
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GenotypeDepth
all individuals: 6
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GenotypeQuality
all individuals: 29
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GenotypeQuality
all individuals: 763
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GenotypeQuality
all individuals: 111
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GenotypeQuality
all individuals: 7
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variant carriers: 1

GenotypeQuality
all individuals: 28
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GenotypeQuality
all individuals: 10
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GenotypeQuality
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GenotypeQuality
all individuals: 139
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GenotypeQuality
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GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 3419
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GenotypeQuality
all individuals: 35
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GenotypeQuality
all individuals: 11
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variant carriers: 7

GenotypeQuality
all individuals: 9271
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 14
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variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 1.792114695340502e-3
allele num: 1116
num of homozygotes: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.5e-1
allele num: 4
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 2.976190476190476e-2
allele num: 336
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 36
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.355e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

DP
type: SiteQuality
SIO_000300: 6.01476e5

VQSLOD
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SIO_000300: 1.66e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.195e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.19e-1

GenotypeDepth
all individuals: 4227
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4
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variant carriers: 0

GenotypeDepth
all individuals: 2
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GenotypeDepth
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GenotypeDepth
all individuals: 9
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GenotypeDepth
all individuals: 52
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 358
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 48
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1116
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.01476e5

MQRankSum
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FS
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BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.195e1

VQSLOD
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SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.355e-1

MQ
type: SiteQuality
SIO_000300: 5.913e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

GenotypeDepth
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bin: 1.25e1
variant carriers: 1

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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variant carriers: 0

GenotypeDepth
all individuals: 5
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1116
num of homozygotes: 0

Other
type: Population
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

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

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

South Asian
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allele count: 1
allele frequency: 2.976190476190476e-3
allele num: 336
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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DP
type: SiteQuality
SIO_000300: 6.01476e5

MQRankSum
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InbreedingCoeff
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ClippingRankSum
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BaseQRankSum
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QD
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MQ
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FS
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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bin: 4.75e1
variant carriers: 63

GenotypeDepth
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variant carriers: 7

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 2

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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variant carriers: 8601

GenotypeQuality
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bin: 8.25e1
variant carriers: 250

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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variant carriers: 791

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 4.25e1
variant carriers: 1078

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 590

GenotypeQuality
all individuals: 1662
bin: 3.75e1
variant carriers: 1658

GenotypeQuality
all individuals: 1272
bin: 9.75e1
variant carriers: 1266

GenotypeQuality
all individuals: 286
bin: 7.25e1
variant carriers: 283

GenotypeQuality
all individuals: 241
bin: 7.75e1
variant carriers: 241

African
type: Population
allele count: 1465
allele frequency: 8.304988662131519e-1
allele num: 1764
num of homozygotes: 601

Latino
type: Population
allele count: 834
allele frequency: 9.287305122494433e-1
allele num: 898
num of homozygotes: 385

European (Non-Finnish)
type: Population
allele count: 8771
allele frequency: 8.948173842073046e-1
allele num: 9802
num of homozygotes: 3906

Other
type: Population
allele count: 133
allele frequency: 8.986486486486487e-1
allele num: 148
num of homozygotes: 59

European (Finnish)
type: Population
allele count: 388
allele frequency: 8.622222222222222e-1
allele num: 450
num of homozygotes: 169

East Asian
type: Population
allele count: 1194
allele frequency: 9.582664526484751e-1
allele num: 1246
num of homozygotes: 571

South Asian
type: Population
allele count: 6277
allele frequency: 9.346337105419893e-1
allele num: 6716
num of homozygotes: 2921

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

QD
type: SiteQuality
SIO_000300: 2.512e1

MQ
type: SiteQuality
SIO_000300: 5.995e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

DP
type: SiteQuality
SIO_000300: 4.59296e5

GenotypeDepth
all individuals: 2409
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22877
bin: 7.5e0
variant carriers: 4

GenotypeDepth
all individuals: 627
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 43
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 591
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6364
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2058
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6409
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3872
bin: 2.5e0
variant carriers: 2

GenotypeQuality
all individuals: 1272
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 8668
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3519
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8456
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1246
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1764
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e-1

QD
type: SiteQuality
SIO_000300: 2.512e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.995e1

DP
type: SiteQuality
SIO_000300: 4.59296e5

GenotypeDepth
all individuals: 63
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 288
bin: 3.75e1
variant carriers: 9

GenotypeDepth
all individuals: 22877
bin: 7.5e0
variant carriers: 111

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

GenotypeDepth
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 3.75e1
variant carriers: 32

GenotypeQuality
all individuals: 792
bin: 4.75e1
variant carriers: 18

GenotypeQuality
all individuals: 286
bin: 7.25e1
variant carriers: 8

GenotypeQuality
all individuals: 241
bin: 7.75e1
variant carriers: 10

GenotypeQuality
all individuals: 1082
bin: 4.25e1
variant carriers: 36

GenotypeQuality
all individuals: 250
bin: 8.25e1
variant carriers: 8

GenotypeQuality
all individuals: 6409
bin: 2.25e1
variant carriers: 35

GenotypeQuality
all individuals: 263
bin: 9.25e1
variant carriers: 6

GenotypeQuality
all individuals: 3872
bin: 2.5e0
variant carriers: 31

GenotypeQuality
all individuals: 6364
bin: 7.5e0
variant carriers: 58

GenotypeQuality
all individuals: 1272
bin: 9.75e1
variant carriers: 47

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 10

GenotypeQuality
all individuals: 2058
bin: 3.25e1
variant carriers: 39

GenotypeQuality
all individuals: 8456
bin: 1.25e1
variant carriers: 43

GenotypeQuality
all individuals: 591
bin: 5.25e1
variant carriers: 26

GenotypeQuality
all individuals: 531
bin: 6.75e1
variant carriers: 17

GenotypeQuality
all individuals: 500
bin: 5.75e1
variant carriers: 24

GenotypeQuality
all individuals: 8668
bin: 1.75e1
variant carriers: 25

GenotypeQuality
all individuals: 3519
bin: 2.75e1
variant carriers: 25

GenotypeQuality
all individuals: 498
bin: 6.25e1
variant carriers: 27

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

East Asian
type: Population
allele count: 16
allele frequency: 1.284109149277689e-2
allele num: 1246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 102
allele frequency: 1.040603958375842e-2
allele num: 9802
num of homozygotes: 1

Other
type: Population
allele count: 2
allele frequency: 1.351351351351351e-2
allele num: 148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 1.333333333333333e-2
allele num: 450
num of homozygotes: 0

South Asian
type: Population
allele count: 126
allele frequency: 1.876116736152472e-2
allele num: 6716
num of homozygotes: 0

African
type: Population
allele count: 9
allele frequency: 5.10204081632653e-3
allele num: 1764
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-1

DP
type: SiteQuality
SIO_000300: 4.59296e5

QD
type: SiteQuality
SIO_000300: 2.512e1

MQ
type: SiteQuality
SIO_000300: 5.995e1

GenotypeDepth
all individuals: 2409
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1591
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1272
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 286
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8668
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6409
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 500
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 591
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 263
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3519
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3872
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8456
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6364
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2058
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 498
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 250
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 243
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 1.133786848072562e-3
allele num: 1764
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 148
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6716
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.000000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.59296e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e-1

QD
type: SiteQuality
SIO_000300: 2.512e1

MQ
type: SiteQuality
SIO_000300: 5.995e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.58e-1