15-40558553-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558553
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558553
    reference: chr 15
allele count: 1
allele frequency: 8.857709750566894e-6
allele num: 112896
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1134G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.715G>A
  hgvsp: ENSP00000401153.1:p.Gly239Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.715G>A
  hgvsp: ENSP00000409465.2:p.Gly239Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.339G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.715G>A
  hgvsp: ENSP00000406873.1:p.Gly239Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*513G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.715G>A
  hgvsp: ENSP00000439597.2:p.Gly239Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.715G>A
  hgvsp: ENSP00000453021.1:p.Gly239Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.715G>A
  hgvsp: ENSP00000453858.1:p.Gly239Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.715G>A
  hgvsp: ENSP00000260404.4:p.Gly239Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1072G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25163
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly239Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

15-40558562-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558562
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558562
    reference: chr 15
allele count: 1
allele frequency: 8.825657952800381e-6
allele num: 113306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.724G>A
  hgvsp: ENSP00000260404.4:p.Gly242Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1143G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.724G>A
  hgvsp: ENSP00000406873.1:p.Gly242Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.724G>A
  hgvsp: ENSP00000439597.2:p.Gly242Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1081G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.724G>A
  hgvsp: ENSP00000453021.1:p.Gly242Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.348G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*522G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.724G>A
  hgvsp: ENSP00000401153.1:p.Gly242Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.724G>A
  hgvsp: ENSP00000409465.2:p.Gly242Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.724G>A
  hgvsp: ENSP00000453858.1:p.Gly242Ser
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5958
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2434
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25793
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15901
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gly242Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: QD

15-40558579-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558579
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558579
    reference: chr 15
allele count: 1
allele frequency: 8.759482139415918e-6
allele num: 114162
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.741T>C
  hgvsp: ENST00000560346.1:c.741T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.365T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.741T>C
  hgvsp: ENST00000455577.2:c.741T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.741T>C
  hgvsp: ENST00000453867.1:c.741T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.741T>C
  hgvsp: ENST00000560669.1:c.741T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.741T>C
  hgvsp: ENST00000260404.4:c.741T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*539T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.741T>C
  hgvsp: ENST00000441369.1:c.741T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1160T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.741T>C
  hgvsp: ENST00000542403.2:c.741T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1098T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5047
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2381
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4786
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2866
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16576
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro247Pro
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP

15-40558581-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558581
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558581
    reference: chr 15
allele count: 2
allele frequency: 1.751037489712655e-5
allele num: 114218
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1162G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.743G>C
  hgvsp: ENSP00000409465.2:p.Ser248Thr
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*541G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.367G>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.743G>C
  hgvsp: ENSP00000453021.1:p.Ser248Thr
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.743G>C
  hgvsp: ENSP00000439597.2:p.Ser248Thr
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.743G>C
  hgvsp: ENSP00000406873.1:p.Ser248Thr
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.743G>C
  hgvsp: ENSP00000260404.4:p.Ser248Thr
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.743G>C
  hgvsp: ENSP00000401153.1:p.Ser248Thr
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.743G>C
  hgvsp: ENSP00000453858.1:p.Ser248Thr
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1100G>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16669
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28029
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser248Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

15-40558582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558582
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558582
    reference: chr 15
allele count: 1
allele frequency: 8.755800717975658e-6
allele num: 114210
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.744C>T
  hgvsp: ENST00000455577.2:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.744C>T
  hgvsp: ENST00000542403.2:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.744C>T
  hgvsp: ENST00000560669.1:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.744C>T
  hgvsp: ENST00000441369.1:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1101C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.744C>T
  hgvsp: ENST00000260404.4:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.744C>T
  hgvsp: ENST00000453867.1:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.368C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1163C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.744C>T
  hgvsp: ENST00000560346.1:c.744C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*542C>T
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27948
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4639
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16719
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4864
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser248Ser
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

15-40558583-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558583
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558583
    reference: chr 15
allele count: 2
allele frequency: 1.750240658090488e-5
allele num: 114270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.745C>T
  hgvsp: ENSP00000401153.1:p.Pro249Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.745C>T
  hgvsp: ENSP00000453021.1:p.Pro249Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.745C>T
  hgvsp: ENSP00000453858.1:p.Pro249Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.745C>T
  hgvsp: ENSP00000439597.2:p.Pro249Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.745C>T
  hgvsp: ENSP00000260404.4:p.Pro249Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*543C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1102C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.745C>T
  hgvsp: ENSP00000409465.2:p.Pro249Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.369C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.745C>T
  hgvsp: ENSP00000406873.1:p.Pro249Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1164C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4486
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4767
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16777
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro249Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ

15-40558584-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558584
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558584
    reference: chr 15
allele count: 1
allele frequency: 8.748906386701662e-6
allele num: 114300
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*544C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.746C>G
  hgvsp: ENSP00000401153.1:p.Pro249Arg
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.746C>G
  hgvsp: ENSP00000453858.1:p.Pro249Arg
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.746C>G
  hgvsp: ENSP00000453021.1:p.Pro249Arg
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.746C>G
  hgvsp: ENSP00000260404.4:p.Pro249Arg
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.746C>G
  hgvsp: ENSP00000406873.1:p.Pro249Arg
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.746C>G
  hgvsp: ENSP00000439597.2:p.Pro249Arg
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.746C>G
  hgvsp: ENSP00000409465.2:p.Pro249Arg
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1165C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.370C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1103C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4436
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16875
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28170
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Pro249Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

15-40558585-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558585
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558585
    reference: chr 15
allele count: 1
allele frequency: 8.748600223964166e-6
allele num: 114304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.747T>C
  hgvsp: ENST00000260404.4:c.747T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.747T>C
  hgvsp: ENST00000455577.2:c.747T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.747T>C
  hgvsp: ENST00000453867.1:c.747T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1166T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1104T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.371T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.747T>C
  hgvsp: ENST00000560669.1:c.747T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.747T>C
  hgvsp: ENST00000542403.2:c.747T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.747T>C
  hgvsp: ENST00000560346.1:c.747T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*545T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.747T>C
  hgvsp: ENST00000441369.1:c.747T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4407
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16934
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 550
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4641
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro249Pro
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

15-40558592-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558592
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558592
    reference: chr 15
allele count: 3
allele frequency: 2.623386617230403e-5
allele num: 114356
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*552C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.754C>T
  hgvsp: ENSP00000406873.1:p.Arg252Trp
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.754C>T
  hgvsp: ENSP00000439597.2:p.Arg252Trp
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.754C>T
  hgvsp: ENSP00000409465.2:p.Arg252Trp
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.754C>T
  hgvsp: ENSP00000401153.1:p.Arg252Trp
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.754C>T
  hgvsp: ENSP00000260404.4:p.Arg252Trp
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.754C>T
  hgvsp: ENSP00000453858.1:p.Arg252Trp
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.754C>T
  hgvsp: ENSP00000453021.1:p.Arg252Trp
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1111C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.378C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1173C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17367
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28360
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Arg252Trp
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

15-40558593-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558593
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558593
    reference: chr 15
allele count: 5
allele frequency: 4.369559897927081e-5
allele num: 114428
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.755G>A
  hgvsp: ENSP00000453021.1:p.Arg252Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.755G>A
  hgvsp: ENSP00000409465.2:p.Arg252Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.755G>A
  hgvsp: ENSP00000406873.1:p.Arg252Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*553G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.755G>A
  hgvsp: ENSP00000453858.1:p.Arg252Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1112G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1174G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.755G>A
  hgvsp: ENSP00000401153.1:p.Arg252Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.379G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.755G>A
  hgvsp: ENSP00000260404.4:p.Arg252Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.755G>A
  hgvsp: ENSP00000439597.2:p.Arg252Gln
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4173
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2549
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17516
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2747
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Arg252Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

15-40558597-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558597
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558597
    reference: chr 15
allele count: 1
allele frequency: 8.719155985700584e-6
allele num: 114690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1178G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.759G>A
  hgvsp: ENST00000260404.4:c.759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.759G>A
  hgvsp: ENST00000441369.1:c.759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.759G>A
  hgvsp: ENST00000453867.1:c.759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.759G>A
  hgvsp: ENST00000542403.2:c.759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*557G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.383G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.759G>A
  hgvsp: ENST00000560346.1:c.759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.759G>A
  hgvsp: ENST00000455577.2:c.759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.759G>A
  hgvsp: ENST00000560669.1:c.759G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1116G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17565
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu253Glu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

15-40558597-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558597
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558597
    reference: chr 15
allele count: 1
allele frequency: 8.719155985700584e-6
allele num: 114690
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.759G>C
  hgvsp: ENSP00000406873.1:p.Glu253Asp
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1178G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1116G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.759G>C
  hgvsp: ENSP00000453021.1:p.Glu253Asp
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*557G>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.759G>C
  hgvsp: ENSP00000260404.4:p.Glu253Asp
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.759G>C
  hgvsp: ENSP00000401153.1:p.Glu253Asp
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.383G>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.759G>C
  hgvsp: ENSP00000439597.2:p.Glu253Asp
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.759G>C
  hgvsp: ENSP00000453858.1:p.Glu253Asp
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.759G>C
  hgvsp: ENSP00000409465.2:p.Glu253Asp
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4030
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2745
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28929
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3823
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu253Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum

15-40558608-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558608
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558608
    reference: chr 15
allele count: 1
allele frequency: 8.699283179066045e-6
allele num: 114952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.770A>G
  hgvsp: ENSP00000260404.4:p.Lys257Arg
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*568A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.770A>G
  hgvsp: ENSP00000439597.2:p.Lys257Arg
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.770A>G
  hgvsp: ENSP00000453858.1:p.Lys257Arg
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.770A>G
  hgvsp: ENSP00000406873.1:p.Lys257Arg
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1189A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.770A>G
  hgvsp: ENSP00000453021.1:p.Lys257Arg
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.770A>G
  hgvsp: ENSP00000409465.2:p.Lys257Arg
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1127A>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.770A>G
  hgvsp: ENSP00000401153.1:p.Lys257Arg
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.394A>G
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18011
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2494
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys257Arg
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD

15-40558610-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558610
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558610
    reference: chr 15
allele count: 40
allele frequency: 3.481227480809733e-4
allele num: 114902
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.772C>G
  hgvsp: ENSP00000453021.1:p.Arg258Gly
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.396C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.772C>G
  hgvsp: ENSP00000439597.2:p.Arg258Gly
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.772C>G
  hgvsp: ENSP00000401153.1:p.Arg258Gly
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.772C>G
  hgvsp: ENSP00000406873.1:p.Arg258Gly
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1191C>G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*570C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.772C>G
  hgvsp: ENSP00000453858.1:p.Arg258Gly
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.772C>G
  hgvsp: ENSP00000260404.4:p.Arg258Gly
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1129C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.772C>G
  hgvsp: ENSP00000409465.2:p.Arg258Gly
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29682
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18080
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg258Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

15-40558610-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558610
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558610
    reference: chr 15
allele count: 5
allele frequency: 4.351534351012167e-5
allele num: 114902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.772C>T
  hgvsp: ENSP00000401153.1:p.Arg258Cys
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.396C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.772C>T
  hgvsp: ENSP00000406873.1:p.Arg258Cys
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1191C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.772C>T
  hgvsp: ENSP00000453858.1:p.Arg258Cys
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.772C>T
  hgvsp: ENSP00000453021.1:p.Arg258Cys
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.772C>T
  hgvsp: ENSP00000260404.4:p.Arg258Cys
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1129C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.772C>T
  hgvsp: ENSP00000439597.2:p.Arg258Cys
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.772C>T
  hgvsp: ENSP00000409465.2:p.Arg258Cys
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*570C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18080
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3012
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg258Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP

15-40558611-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558611
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558611
    reference: chr 15
allele count: 1
allele frequency: 8.705644740049447e-6
allele num: 114868
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.397G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.773G>A
  hgvsp: ENSP00000406873.1:p.Arg258His
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.773G>A
  hgvsp: ENSP00000260404.4:p.Arg258His
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1130G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1192G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.773G>A
  hgvsp: ENSP00000409465.2:p.Arg258His
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.773G>A
  hgvsp: ENSP00000439597.2:p.Arg258His
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.773G>A
  hgvsp: ENSP00000401153.1:p.Arg258His
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.773G>A
  hgvsp: ENSP00000453858.1:p.Arg258His
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*571G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.773G>A
  hgvsp: ENSP00000453021.1:p.Arg258His
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18180
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg258His
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum

15-40558611-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558611
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558611
    reference: chr 15
allele count: 1
allele frequency: 8.705644740049447e-6
allele num: 114868
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.773G>T
  hgvsp: ENSP00000401153.1:p.Arg258Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1130G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.773G>T
  hgvsp: ENSP00000406873.1:p.Arg258Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.397G>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.773G>T
  hgvsp: ENSP00000453021.1:p.Arg258Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.773G>T
  hgvsp: ENSP00000260404.4:p.Arg258Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*571G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.773G>T
  hgvsp: ENSP00000439597.2:p.Arg258Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.773G>T
  hgvsp: ENSP00000453858.1:p.Arg258Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.773G>T
  hgvsp: ENSP00000409465.2:p.Arg258Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1192G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg258Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

15-40558612-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558612
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558612
    reference: chr 15
allele count: 1
allele frequency: 8.702462796971543e-6
allele num: 114910
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.774C>T
  hgvsp: ENST00000560669.1:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.774C>T
  hgvsp: ENST00000542403.2:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.774C>T
  hgvsp: ENST00000560346.1:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.398C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.774C>T
  hgvsp: ENST00000441369.1:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1193C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.774C>T
  hgvsp: ENST00000260404.4:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.774C>T
  hgvsp: ENST00000453867.1:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1131C>T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*572C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.774C>T
  hgvsp: ENST00000455577.2:c.774C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2525
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18242
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29756
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg258Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum

15-40558619-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558619
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558619
    reference: chr 15
allele count: 1
allele frequency: 8.708070639869031e-6
allele num: 114836
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.781T>C
  hgvsp: ENSP00000453021.1:p.Phe261Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.781T>C
  hgvsp: ENSP00000453858.1:p.Phe261Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.781T>C
  hgvsp: ENSP00000439597.2:p.Phe261Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.781T>C
  hgvsp: ENSP00000409465.2:p.Phe261Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1138T>C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*579T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.781T>C
  hgvsp: ENSP00000260404.4:p.Phe261Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.781T>C
  hgvsp: ENSP00000401153.1:p.Phe261Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.781T>C
  hgvsp: ENSP00000406873.1:p.Phe261Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.405T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1200T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18333
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3403
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2512
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30011
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe261Leu
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD

15-40558623-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558623
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558623
    reference: chr 15
allele count: 1303
allele frequency: 1.135987166745131e-2
allele num: 114702
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.785G>A
  hgvsp: ENSP00000401153.1:p.Arg262Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.785G>A
  hgvsp: ENSP00000406873.1:p.Arg262Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.785G>A
  hgvsp: ENSP00000260404.4:p.Arg262Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.785G>A
  hgvsp: ENSP00000439597.2:p.Arg262Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.785G>A
  hgvsp: ENSP00000453021.1:p.Arg262Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.785G>A
  hgvsp: ENSP00000409465.2:p.Arg262Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.409G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1204G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.785G>A
  hgvsp: ENSP00000453858.1:p.Arg262Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*583G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1142G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 5.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3386
  bin: 1.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 29571
  bin: 2.25e1
  variant carriers: 187
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 4.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 3.25e1
  variant carriers: 215
genotype depth: GenotypeDepth
  all individuals: 18232
  bin: 2.75e1
  variant carriers: 231
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 5.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 2497
  bin: 1.75e1
  variant carriers: 111
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 7.5e0
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 526
  bin: 3.75e1
  variant carriers: 186
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 4.25e1
  variant carriers: 109
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
hgvs: p.Arg262Gln
num of homozygotes: 22
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

15-40558631-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558631
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558631
    reference: chr 15
allele count: 1
allele frequency: 8.764549151591641e-6
allele num: 114096
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1150T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.417T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.793T>C
  hgvsp: ENSP00000401153.1:p.Phe265Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.793T>C
  hgvsp: ENSP00000453858.1:p.Phe265Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1212T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.793T>C
  hgvsp: ENSP00000260404.4:p.Phe265Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.793T>C
  hgvsp: ENSP00000409465.2:p.Phe265Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.793T>C
  hgvsp: ENSP00000439597.2:p.Phe265Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.793T>C
  hgvsp: ENSP00000453021.1:p.Phe265Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.793T>C
  hgvsp: ENSP00000406873.1:p.Phe265Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*591T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3852
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2379
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe265Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

15-40558644-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558644
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558644
    reference: chr 15
allele count: 1
allele frequency: 8.907416314823723e-6
allele num: 112266
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1163C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.430C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.806C>G
  hgvsp: ENSP00000409465.2:p.Ala269Gly
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.806C>G
  hgvsp: ENSP00000453021.1:p.Ala269Gly
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.806C>G
  hgvsp: ENSP00000401153.1:p.Ala269Gly
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.806C>G
  hgvsp: ENSP00000406873.1:p.Ala269Gly
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*604C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.806C>G
  hgvsp: ENSP00000439597.2:p.Ala269Gly
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1225C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.806C>G
  hgvsp: ENSP00000453858.1:p.Ala269Gly
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.806C>G
  hgvsp: ENSP00000260404.4:p.Ala269Gly
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4940
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17527
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28004
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3906
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala269Gly
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff

15-40558651-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558651
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558651
    reference: chr 15
allele count: 1
allele frequency: 9.032281373629351e-6
allele num: 110714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.437A>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.813A>T
  hgvsp: ENST00000560669.1:c.813A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.813A>T
  hgvsp: ENST00000260404.4:c.813A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.813A>T
  hgvsp: ENST00000453867.1:c.813A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.813A>T
  hgvsp: ENST00000542403.2:c.813A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1232A>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.813A>T
  hgvsp: ENST00000441369.1:c.813A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.813A>T
  hgvsp: ENST00000455577.2:c.813A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1170A>T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*611A>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.813A>T
  hgvsp: ENST00000560346.1:c.813A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17298
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr271Thr
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD

15-40558665-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558665
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558665
    reference: chr 15
allele count: 2
allele frequency: 1.849864959857931e-5
allele num: 108116
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*625G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.827G>A
  hgvsp: ENSP00000453858.1:p.Ser276Asn
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.451G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.827G>A
  hgvsp: ENSP00000439597.2:p.Ser276Asn
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.827G>A
  hgvsp: ENSP00000409465.2:p.Ser276Asn
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.827G>A
  hgvsp: ENSP00000260404.4:p.Ser276Asn
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.827G>A
  hgvsp: ENSP00000453021.1:p.Ser276Asn
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.827G>A
  hgvsp: ENSP00000401153.1:p.Ser276Asn
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.827G>A
  hgvsp: ENSP00000406873.1:p.Ser276Asn
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1246G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1184G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16443
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2924
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser276Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum

15-40558671-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558671
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558671
    reference: chr 15
allele count: 1
allele frequency: 9.3463184851487e-6
allele num: 106994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1252A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.833A>T
  hgvsp: ENSP00000406873.1:p.Lys278Met
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.833A>T
  hgvsp: ENSP00000453021.1:p.Lys278Met
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.833A>T
  hgvsp: ENSP00000401153.1:p.Lys278Met
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1190A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.833A>T
  hgvsp: ENSP00000439597.2:p.Lys278Met
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.457A>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.833A>T
  hgvsp: ENSP00000260404.4:p.Lys278Met
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.833A>T
  hgvsp: ENSP00000409465.2:p.Lys278Met
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*631A>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.833A>T
  hgvsp: ENSP00000453858.1:p.Lys278Met
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 722
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2387
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys278Met
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

15-40558679-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558679
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558679
    reference: chr 15
allele count: 1
allele frequency: 9.585338266587428e-6
allele num: 104326
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.841C>T
  hgvsp: ENSP00000439597.2:p.Pro281Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.841C>T
  hgvsp: ENSP00000453858.1:p.Pro281Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.841C>T
  hgvsp: ENSP00000406873.1:p.Pro281Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.841C>T
  hgvsp: ENSP00000409465.2:p.Pro281Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.841C>T
  hgvsp: ENSP00000401153.1:p.Pro281Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.841C>T
  hgvsp: ENSP00000260404.4:p.Pro281Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.465C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*639C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.841C>T
  hgvsp: ENSP00000453021.1:p.Pro281Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1260C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1198C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7398
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1687
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9285
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23079
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro281Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

15-40558680-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558680
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558680
    reference: chr 15
allele count: 1
allele frequency: 9.607809227339982e-6
allele num: 104082
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.842C>T
  hgvsp: ENSP00000260404.4:p.Pro281Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.842C>T
  hgvsp: ENSP00000401153.1:p.Pro281Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.842C>T
  hgvsp: ENSP00000453021.1:p.Pro281Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.842C>T
  hgvsp: ENSP00000439597.2:p.Pro281Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*640C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1199C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.842C>T
  hgvsp: ENSP00000409465.2:p.Pro281Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1261C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.466C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.842C>T
  hgvsp: ENSP00000406873.1:p.Pro281Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.842C>T
  hgvsp: ENSP00000453858.1:p.Pro281Leu
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9477
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15355
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2314
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1662
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro281Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS

15-40558681-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558681
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558681
    reference: chr 15
allele count: 1
allele frequency: 9.637996838737038e-6
allele num: 103756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1200T>C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*641T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.843T>C
  hgvsp: ENST00000560346.1:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.843T>C
  hgvsp: ENST00000560669.1:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1262T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.467T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.843T>C
  hgvsp: ENST00000542403.2:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.843T>C
  hgvsp: ENST00000260404.4:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.843T>C
  hgvsp: ENST00000453867.1:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.843T>C
  hgvsp: ENST00000441369.1:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.843T>C
  hgvsp: ENST00000455577.2:c.843T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2320
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1659
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9696
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15218
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro281Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

15-40558685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558685
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558685
    reference: chr 15
allele count: 1
allele frequency: 9.766197238119422e-6
allele num: 102394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1204C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.847C>T
  hgvsp: ENSP00000260404.4:p.Pro283Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1266C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.847C>T
  hgvsp: ENSP00000406873.1:p.Pro283Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.471C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.847C>T
  hgvsp: ENSP00000409465.2:p.Pro283Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.847C>T
  hgvsp: ENSP00000401153.1:p.Pro283Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.847C>T
  hgvsp: ENSP00000439597.2:p.Pro283Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.847C>T
  hgvsp: ENSP00000453858.1:p.Pro283Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.847C>T
  hgvsp: ENSP00000453021.1:p.Pro283Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*645C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21572
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14595
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10685
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro283Ser
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

15-40558688-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558688
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558688
    reference: chr 15
allele count: 1
allele frequency: 9.873032798214955e-6
allele num: 101286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.850C>G
  hgvsp: ENSP00000401153.1:p.Gln284Glu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.474C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.850C>G
  hgvsp: ENSP00000439597.2:p.Gln284Glu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.850C>G
  hgvsp: ENSP00000260404.4:p.Gln284Glu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.850C>G
  hgvsp: ENSP00000453021.1:p.Gln284Glu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*648C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.850C>G
  hgvsp: ENSP00000453858.1:p.Gln284Glu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1207C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.850C>G
  hgvsp: ENSP00000409465.2:p.Gln284Glu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.850C>G
  hgvsp: ENSP00000406873.1:p.Gln284Glu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1269C>G
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 8517
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11638
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2555
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln284Glu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

15-40558692-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558692
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558692
    reference: chr 15
allele count: 0
allele frequency: 0.0e0
allele num: 99766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.854G>A
  hgvsp: ENSP00000409465.2:p.Ser285Asn
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.854G>A
  hgvsp: ENSP00000406873.1:p.Ser285Asn
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.854G>A
  hgvsp: ENSP00000439597.2:p.Ser285Asn
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1273G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.854G>A
  hgvsp: ENSP00000260404.4:p.Ser285Asn
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.854G>A
  hgvsp: ENSP00000401153.1:p.Ser285Asn
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1211G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.478G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: incomplete_terminal_codon_variant
  consequence: coding_sequence_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453021
  ensembl transcript: ENST00000560669
  gene symbol: PAK6
  hgvsc: ENST00000560669.1:c.854G>A
  hgvsp: ENST00000560669.1:c.854G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.854G>A
  hgvsp: ENSP00000453858.1:p.Ser285Asn
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*652G>A
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18842
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2979
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9081
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1422
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser285Asn
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

15-40558693-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558693
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558693
    reference: chr 15
allele count: 2
allele frequency: 2.03231378924906e-5
allele num: 98410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.855C>T
  hgvsp: ENST00000455577.2:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.855C>T
  hgvsp: ENST00000560346.1:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.855C>T
  hgvsp: ENST00000453867.1:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1274C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.479C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.855C>T
  hgvsp: ENST00000260404.4:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*653C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1212C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.855C>T
  hgvsp: ENST00000441369.1:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.855C>T
  hgvsp: ENST00000542403.2:c.855C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17402
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3504
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14500
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9392
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12193
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17899
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser285Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum

15-40558703-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558703
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558703
    reference: chr 15
allele count: 3
allele frequency: 3.171716744549933e-5
allele num: 94586
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.858+7C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*656+7C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1277+7C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1215+7C>T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.858+7C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.482+7C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.858+7C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.858+7C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.858+7C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.858+7C>T
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13854
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9444
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2417
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 4.25e1
  variant carriers: 0
hgvs: c.858+7C>T
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

15-40558715-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558715
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558715
    reference: chr 15
allele count: 2
allele frequency: 2.223408039843472e-5
allele num: 89952
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.858+19C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1277+19C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.858+19C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1215+19C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.482+19C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.858+19C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.858+19C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*656+19C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.858+19C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.858+19C>G
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22369
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11370
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5724
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22156
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6574
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: C
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum

15-40558721-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558721
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558721
    reference: chr 15
allele count: 1
allele frequency: 1.138252100075125e-5
allele num: 87854
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.858+25G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.858+25G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.858+25G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1215+25G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.858+25G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1277+25G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.482+25G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.858+25G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.858+25G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*656+25G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11827
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9010
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23120
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22068
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

15-40558723-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558723
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558723
    reference: chr 15
allele count: 1
allele frequency: 1.148712293518965e-5
allele num: 87054
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*656+27G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.858+27G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1215+27G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.482+27G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.858+27G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.858+27G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.858+27G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1277+27G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.858+27G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.858+27G>A
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12004
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3903
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9665
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 737
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP

15-40558724-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558724
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558724
    reference: chr 15
allele count: 1
allele frequency: 1.147815706710131e-5
allele num: 87122
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*656+28T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.858+28T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.858+28T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.858+28T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.482+28T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.858+28T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1277+28T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.858+28T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.858+28T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1215+28T>C
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23093
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12046
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6149
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21943
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4287
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 933
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8402
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

15-40558725-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558725
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558725
    reference: chr 15
allele count: 1
allele frequency: 1.154201292705448e-5
allele num: 86640
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.858+29C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*656+29C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.482+29C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1215+29C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.858+29C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.858+29C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1277+29C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.858+29C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.858+29C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.858+29C>T
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10032
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23009
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4362
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4929
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum

http://identifiers.org/exac.variant/15-40558728-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558728
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558728
    reference: chr 15
allele count: 3
allele frequency: 3.507623234496305e-5
allele num: 85528
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.482+32C>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*656+32C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1215+32C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.858+32C>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.858+32C>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.858+32C>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.858+32C>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1277+32C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.858+32C>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.858+32C>A
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22794
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12494
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10837
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21280
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1172
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

15-40558728-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558728
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558728
    reference: chr 15
allele count: 1
allele frequency: 1.169207744832102e-5
allele num: 85528
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*656+32C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.858+32C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.858+32C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.482+32C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.858+32C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1215+32C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1277+32C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.858+32C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.858+32C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.858+32C>T
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4512
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5191
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10837
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6777
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

15-40558738-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558738
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558738
    reference: chr 15
allele count: 1
allele frequency: 1.250437653178613e-5
allele num: 79972
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.858+42G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1215+42G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.858+42G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.858+42G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1277+42G>A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*656+42G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.858+42G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.858+42G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.482+42G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.858+42G>A
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2070
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11617
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5014
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20998
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14627
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5935
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

15-40558743-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558743
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558743
    reference: chr 15
allele count: 2
allele frequency: 2.596525848414821e-5
allele num: 77026
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.858+47A>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.858+47A>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*656+47A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1277+47A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.858+47A>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.858+47A>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.858+47A>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.858+47A>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.482+47A>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1215+47A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4346
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5119
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20636
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6280
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD

15-40558744-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40558744
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40558744
    reference: chr 15
allele count: 50276
allele frequency: 6.465036134043155e-1
allele num: 77766
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.858+48G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.858+48G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.858+48G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.858+48G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*656+48G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000559901
  gene symbol: PAK6
  hgvsc: ENST00000559901.1:n.482+48G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.858+48G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1277+48G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.858+48G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1215+48G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.25e1
  variant carriers: 90
genotype depth: GenotypeDepth
  all individuals: 11903
  bin: 1.75e1
  variant carriers: 10311
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 6.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 3379
  bin: 2.5e0
  variant carriers: 1600
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 3.75e1
  variant carriers: 329
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 4.25e1
  variant carriers: 200
genotype depth: GenotypeDepth
  all individuals: 717
  bin: 3.25e1
  variant carriers: 625
genotype depth: GenotypeDepth
  all individuals: 15037
  bin: 7.5e0
  variant carriers: 10898
genotype depth: GenotypeDepth
  all individuals: 4577
  bin: 2.25e1
  variant carriers: 4005
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 20596
  bin: 1.25e1
  variant carriers: 16857
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 4.75e1
  variant carriers: 142
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 6.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 2.75e1
  variant carriers: 1457
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 8.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 7.5e0
  variant carriers: 860
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 4.25e1
  variant carriers: 1645
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 7.75e1
  variant carriers: 656
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 6.25e1
  variant carriers: 1337
num of homozygotes: 16775
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

15-40564377-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564377
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564377
    reference: chr 15
allele count: 2
allele frequency: 1.784025832694057e-5
allele num: 112106
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.859-48C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1278-48C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.387-48C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*657-48C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.859-48C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.859-48C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1216-48C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.859-48C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.859-48C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.859-48C>G
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3289
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 920
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4071
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1346
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1068
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP

15-40564378-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564378
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564378
    reference: chr 15
allele count: 1
allele frequency: 8.921561630147741e-6
allele num: 112088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.859-47C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1278-47C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.859-47C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.859-47C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.859-47C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1216-47C>T
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*657-47C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.387-47C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.859-47C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.859-47C>T
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14852
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11251
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2019
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

15-40564383-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564383
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564383
    reference: chr 15
allele count: 1
allele frequency: 8.916470504315571e-6
allele num: 112152
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*657-42G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1278-42G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.859-42G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.859-42G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.859-42G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.859-42G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.859-42G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.387-42G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.859-42G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1216-42G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3853
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11252
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4025
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15994
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1597
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1844
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

15-40564397-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564397
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564397
    reference: chr 15
allele count: 1
allele frequency: 8.862733976176972e-6
allele num: 112832
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1278-28G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.859-28G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.859-28G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.859-28G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.387-28G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.859-28G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*657-28G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.859-28G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.859-28G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1216-28G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14914
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3412
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1497
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16228
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/15-40564398-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564398
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564397
    reference: chr 15
allele count: 1
allele frequency: 8.85896527285613e-6
allele num: 112880
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.387-24delC
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.859-24delC
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.859-24delC
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.859-24delC
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*657-24delC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.859-24delC
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1278-24delC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.859-24delC
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1216-24delC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.859-24delC
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1598
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16249
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16654
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: AC
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ

15-40564404-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564404
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564404
    reference: chr 15
allele count: 1
allele frequency: 8.832517797523362e-6
allele num: 113218
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.859-21C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.859-21C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.859-21C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1278-21C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.859-21C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*657-21C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.387-21C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.859-21C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.859-21C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1216-21C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14933
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4070
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2178
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11276
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3426
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7679
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

15-40564408-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564408
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564408
    reference: chr 15
allele count: 1
allele frequency: 8.81010695469843e-6
allele num: 113506
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.859-17T>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.859-17T>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.387-17T>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.859-17T>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.859-17T>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.859-17T>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1278-17T>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.859-17T>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*657-17T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1216-17T>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4069
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1087
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3370
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4310
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14945
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4024
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

15-40564412-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564412
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564412
    reference: chr 15
allele count: 1
allele frequency: 8.779939594015594e-6
allele num: 113896
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1278-13T>C
annotation: Annotation
  canonical: true
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*657-13T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.387-13T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.859-13T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.859-13T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.859-13T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.859-13T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.859-13T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1216-13T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.859-13T>C
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14962
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4068
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2862
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3310
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

15-40564419-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564419
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564419
    reference: chr 15
allele count: 1
allele frequency: 8.73576071004263e-6
allele num: 114472
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.859-6C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.859-6C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.387-6C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.859-6C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.859-6C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.859-6C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*657-6C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1278-6C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1216-6C>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.859-6C>G
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3090
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7716
  bin: 6.75e1
  variant carriers: 0
hgvs: c.*657-6C>G
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

15-40564420-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564420
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564420
    reference: chr 15
allele count: 1
allele frequency: 8.727069624561465e-6
allele num: 114586
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.859-5T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.859-5T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*657-5T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.859-5T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.859-5T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1278-5T>C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.859-5T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.859-5T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1216-5T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.387-5T>C
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4066
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5867
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15005
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7716
  bin: 6.75e1
  variant carriers: 0
hgvs: c.*657-5T>C
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

15-40564421-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564421
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564421
    reference: chr 15
allele count: 15
allele frequency: 1.308078694014232e-4
allele num: 114672
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.859-4G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.859-4G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.859-4G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1278-4G>A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.859-4G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.859-4G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.859-4G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*657-4G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.387-4G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1216-4G>A
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5868
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3033
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4067
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1085
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15015
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2177
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3139
  bin: 2.25e1
  variant carriers: 0
hgvs: c.*657-4G>A
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

15-40564436-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564436
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564436
    reference: chr 15
allele count: 1
allele frequency: 8.590474881451447e-6
allele num: 116408
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.870T>C
  hgvsp: ENST00000260404.4:c.870T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*668T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.870T>C
  hgvsp: ENST00000560346.1:c.870T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1227T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.870T>C
  hgvsp: ENST00000542403.2:c.870T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.870T>C
  hgvsp: ENST00000455577.2:c.870T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.870T>C
  hgvsp: ENST00000441369.1:c.870T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.870T>C
  hgvsp: ENST00000453867.1:c.870T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.398T>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1289T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11311
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 946
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15208
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1086
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 860
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4060
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17408
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser290Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

15-40564440-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564440
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564440
    reference: chr 15
allele count: 1
allele frequency: 8.566337719298245e-6
allele num: 116736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.874C>T
  hgvsp: ENSP00000409465.2:p.Arg292Ter
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1293C>T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*672C>T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.874C>T
  hgvsp: ENSP00000401153.1:p.Arg292Ter
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.874C>T
  hgvsp: ENSP00000453858.1:p.Arg292Ter
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.402C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.874C>T
  hgvsp: ENSP00000439597.2:p.Arg292Ter
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.874C>T
  hgvsp: ENSP00000260404.4:p.Arg292Ter
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1231C>T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.874C>T
  hgvsp: ENSP00000406873.1:p.Arg292Ter
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15321
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5856
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5550
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3541
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4046
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg292Ter
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

15-40564441-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564441
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564441
    reference: chr 15
allele count: 91
allele frequency: 7.776315564594692e-4
allele num: 117022
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.875G>A
  hgvsp: ENSP00000409465.2:p.Arg292Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.875G>A
  hgvsp: ENSP00000401153.1:p.Arg292Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.875G>A
  hgvsp: ENSP00000453858.1:p.Arg292Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*673G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.875G>A
  hgvsp: ENSP00000406873.1:p.Arg292Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1232G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1294G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.875G>A
  hgvsp: ENSP00000260404.4:p.Arg292Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.403G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.875G>A
  hgvsp: ENSP00000439597.2:p.Arg292Gln
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 968
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11355
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15361
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2154
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4063
  bin: 9.75e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg292Gln
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: G
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/15-40564444-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564444
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564444
    reference: chr 15
allele count: 1
allele frequency: 8.505860537910621e-6
allele num: 117566
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.878C>A
  hgvsp: ENSP00000406873.1:p.Pro293Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1297C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.878C>A
  hgvsp: ENSP00000439597.2:p.Pro293Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.878C>A
  hgvsp: ENSP00000409465.2:p.Pro293Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.878C>A
  hgvsp: ENSP00000260404.4:p.Pro293Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.878C>A
  hgvsp: ENSP00000453858.1:p.Pro293Gln
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*676C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.406C>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1235C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.878C>A
  hgvsp: ENSP00000401153.1:p.Pro293Gln
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro293Gln
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

15-40564444-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564444
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564444
    reference: chr 15
allele count: 2
allele frequency: 1.701172107582124e-5
allele num: 117566
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.878C>T
  hgvsp: ENSP00000401153.1:p.Pro293Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.406C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1235C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.878C>T
  hgvsp: ENSP00000260404.4:p.Pro293Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*676C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.878C>T
  hgvsp: ENSP00000409465.2:p.Pro293Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1297C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.878C>T
  hgvsp: ENSP00000439597.2:p.Pro293Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.878C>T
  hgvsp: ENSP00000453858.1:p.Pro293Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.878C>T
  hgvsp: ENSP00000406873.1:p.Pro293Leu
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15513
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11398
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3992
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5873
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18287
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro293Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

15-40564445-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564445
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564445
    reference: chr 15
allele count: 9
allele frequency: 7.637993074886278e-5
allele num: 117832
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.879G>A
  hgvsp: ENST00000455577.2:c.879G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.879G>A
  hgvsp: ENST00000542403.2:c.879G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.879G>A
  hgvsp: ENST00000453867.1:c.879G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.879G>A
  hgvsp: ENST00000260404.4:c.879G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.879G>A
  hgvsp: ENST00000560346.1:c.879G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1298G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.879G>A
  hgvsp: ENST00000441369.1:c.879G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*677G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.407G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1236G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15562
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11405
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5876
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1605
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro293Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD

15-40564447-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564447
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564447
    reference: chr 15
allele count: 2
allele frequency: 1.69187561330491e-5
allele num: 118212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.409C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.881C>T
  hgvsp: ENSP00000439597.2:p.Pro294Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1300C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.881C>T
  hgvsp: ENSP00000260404.4:p.Pro294Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*679C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.881C>T
  hgvsp: ENSP00000401153.1:p.Pro294Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.881C>T
  hgvsp: ENSP00000409465.2:p.Pro294Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.881C>T
  hgvsp: ENSP00000453858.1:p.Pro294Leu
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1238C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.881C>T
  hgvsp: ENSP00000406873.1:p.Pro294Leu
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11424
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1474
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3986
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2877
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro294Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

15-40564448-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564448
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564448
    reference: chr 15
allele count: 10
allele frequency: 8.44124052470751e-5
allele num: 118466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1239G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.410G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.882G>A
  hgvsp: ENST00000455577.2:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.882G>A
  hgvsp: ENST00000542403.2:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.882G>A
  hgvsp: ENST00000453867.1:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.882G>A
  hgvsp: ENST00000441369.1:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*680G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.882G>A
  hgvsp: ENST00000560346.1:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.882G>A
  hgvsp: ENST00000260404.4:c.882G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1301G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6622
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3529
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1852
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16581
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro294Pro
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/15-40564454-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564454
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564454
    reference: chr 15
allele count: 1
allele frequency: 8.385462961410099e-6
allele num: 119254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1307A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.888A>C
  hgvsp: ENSP00000406873.1:p.Lys296Asn
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1245A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.888A>C
  hgvsp: ENSP00000401153.1:p.Lys296Asn
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.416A>C
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.888A>C
  hgvsp: ENSP00000439597.2:p.Lys296Asn
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.888A>C
  hgvsp: ENSP00000409465.2:p.Lys296Asn
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.888A>C
  hgvsp: ENSP00000260404.4:p.Lys296Asn
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*686A>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.888A>C
  hgvsp: ENSP00000453858.1:p.Lys296Asn
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11466
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3528
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7147
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3903
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys296Asn
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: FS

http://identifiers.org/exac.variant/15-40564461-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564461
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564461
    reference: chr 15
allele count: 9
allele frequency: 7.520681875156681e-5
allele num: 119670
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.895C>A
  hgvsp: ENSP00000401153.1:p.Pro299Thr
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*693C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.895C>A
  hgvsp: ENSP00000406873.1:p.Pro299Thr
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.895C>A
  hgvsp: ENSP00000260404.4:p.Pro299Thr
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.895C>A
  hgvsp: ENSP00000453858.1:p.Pro299Thr
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1314C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.895C>A
  hgvsp: ENSP00000439597.2:p.Pro299Thr
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.895C>A
  hgvsp: ENSP00000409465.2:p.Pro299Thr
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.423C>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1252C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7141
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 788
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3535
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5890
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16057
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3979
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16580
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 19785
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro299Thr
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

15-40564464-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564464
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564464
    reference: chr 15
allele count: 1
allele frequency: 8.334305668994715e-6
allele num: 119986
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.898C>T
  hgvsp: ENSP00000409465.2:p.Pro300Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.898C>T
  hgvsp: ENSP00000453858.1:p.Pro300Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1255C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.898C>T
  hgvsp: ENSP00000401153.1:p.Pro300Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.898C>T
  hgvsp: ENSP00000260404.4:p.Pro300Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.898C>T
  hgvsp: ENSP00000439597.2:p.Pro300Ser
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1317C>T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*696C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.426C>T
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.898C>T
  hgvsp: ENSP00000406873.1:p.Pro300Ser
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3976
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11534
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16146
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3917
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1623
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro300Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

15-40564473-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564473
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564473
    reference: chr 15
allele count: 1
allele frequency: 8.291461452995706e-6
allele num: 120606
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.907G>A
  hgvsp: ENSP00000401153.1:p.Val303Met
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1326G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.907G>A
  hgvsp: ENSP00000453858.1:p.Val303Met
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.907G>A
  hgvsp: ENSP00000260404.4:p.Val303Met
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.907G>A
  hgvsp: ENSP00000439597.2:p.Val303Met
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.907G>A
  hgvsp: ENSP00000409465.2:p.Val303Met
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*705G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.907G>A
  hgvsp: ENSP00000406873.1:p.Val303Met
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1264G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.435G>A
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16332
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3537
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11561
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5894
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16574
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Val303Met
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

15-40564475-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564475
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564475
    reference: chr 15
allele count: 55
allele frequency: 4.557356401842829e-4
allele num: 120684
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.909G>A
  hgvsp: ENST00000441369.1:c.909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.909G>A
  hgvsp: ENST00000542403.2:c.909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*707G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.909G>A
  hgvsp: ENST00000260404.4:c.909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.909G>A
  hgvsp: ENST00000560346.1:c.909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.909G>A
  hgvsp: ENST00000453867.1:c.909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.437G>A
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1328G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.909G>A
  hgvsp: ENST00000455577.2:c.909G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1266G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11566
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16360
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3538
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7652
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1434
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5897
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2155
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 865
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 9.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1628
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val303Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP

15-40564483-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564483
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564483
    reference: chr 15
allele count: 1
allele frequency: 8.269520202437855e-6
allele num: 120926
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000558965
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558965.1:n.1274C>G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000259288
  ensembl protein: ENSP00000456785
  ensembl transcript: ENST00000558658
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000558658.1:c.*715C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000406873
  ensembl transcript: ENST00000441369
  gene symbol: PAK6
  hgvsc: ENST00000441369.1:c.917C>G
  hgvsp: ENSP00000406873.1:p.Ala306Gly
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000401153
  ensembl transcript: ENST00000453867
  gene symbol: PAK6
  hgvsc: ENST00000453867.1:c.917C>G
  hgvsp: ENSP00000401153.1:p.Ala306Gly
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000453858
  ensembl transcript: ENST00000560346
  gene symbol: PAK6
  hgvsc: ENST00000560346.1:c.917C>G
  hgvsp: ENSP00000453858.1:p.Ala306Gly
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000260404
  ensembl transcript: ENST00000260404
  gene symbol: PAK6
  hgvsc: ENST00000260404.4:c.917C>G
  hgvsp: ENSP00000260404.4:p.Ala306Gly
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000259288
  ensembl transcript: ENST00000559936
  gene symbol: RP11-133K1.2
  hgvsc: ENST00000559936.1:n.1336C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000137843
  ensembl transcript: ENST00000557926
  gene symbol: PAK6
  hgvsc: ENST00000557926.1:n.445C>G
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000409465
  ensembl transcript: ENST00000455577
  gene symbol: PAK6
  hgvsc: ENST00000455577.2:c.917C>G
  hgvsp: ENSP00000409465.2:p.Ala306Gly
  variant of: http://identifiers.org/hgnc/16061
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000137843
  ensembl protein: ENSP00000439597
  ensembl transcript: ENST00000542403
  gene symbol: PAK6
  hgvsc: ENST00000542403.2:c.917C>G
  hgvsp: ENSP00000439597.2:p.Ala306Gly
  variant of: http://identifiers.org/hgnc/16061
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2161
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 914
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3940
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5902
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1433
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2943
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala306Gly
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

15-40564499-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 40564499
    reference: chr 15
  end: Position
    type: ExactPosition
    position: 40564499
allele count: 2
allele frequency: 1.652155236506022e-5
allele num: 121054
alternate allele: A
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Ser311Ser
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 209
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1549
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 885
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2454
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3818
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2853
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1072
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2412
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6110
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1500
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 600
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34558
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11064
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.232859636000998e-5
allele num: 16044
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5766
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8372
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61718
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.72e-1

FS
type: SiteQuality
SIO_000300: 6.334e0

QD
type: SiteQuality
SIO_000300: 9.58e0

MQRankSum
type: SiteQuality
SIO_000300: 9.98e-1

DP
type: SiteQuality
SIO_000300: 1.290178e6

MQ
type: SiteQuality
SIO_000300: 5.924e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.168e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.86e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.52e-1

GenotypeQuality
all individuals: 91
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 880
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35802
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2326
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2604
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1241
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3944
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2201
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6000
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1362
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.61404867970818e-5
allele num: 61956
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9240
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 804
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16072
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5784
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.799e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.28e0

MQ
type: SiteQuality
SIO_000300: 5.855e1

DP
type: SiteQuality
SIO_000300: 1.300271e6

QD
type: SiteQuality
SIO_000300: 8.85e0

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

GenotypeQuality
all individuals: 38998
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2088
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 977
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1828
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 814
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5379
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4142
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1699
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 879
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 157
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9428
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.19019281123542e-4
allele num: 8402
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 5.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.88e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.96e0

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.4e-2

FS
type: SiteQuality
SIO_000300: 1.0347e1

DP
type: SiteQuality
SIO_000300: 1.325565e6

GenotypeQuality
all individuals: 573
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2014
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1775
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1164
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39265
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5338
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4127
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 86
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 1.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8408
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11112
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 2.117298327334321e-4
allele num: 9446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62504
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5888
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.075e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.329163e6

QD
type: SiteQuality
SIO_000300: 1.639e1

MQRankSum
type: SiteQuality
SIO_000300: -3.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.12e-1

GenotypeQuality
all individuals: 840
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1676
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1770
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1249
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5269
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 642
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38577
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1171
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2022
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 88
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4105
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 873
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11118
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9438
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.600204826217756e-5
allele num: 62492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5888
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.32979e6

QD
type: SiteQuality
SIO_000300: 1.29e1

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.8e-1

GenotypeQuality
all individuals: 563
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39428
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4145
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5260
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 877
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 479
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1181
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1954
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1596
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1740
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 9.25e1
variant carriers: 0

Other
type: Population
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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South Asian
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allele frequency: 6.235191420376606e-5
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European (Non-Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 1.05797714769361e-4
allele num: 9452
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Latino
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East Asian
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VQSLOD
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QD
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FS
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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DP
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MQRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 1.056859015007398e-4
allele num: 9462
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Other
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Latino
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European (Non-Finnish)
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East Asian
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BaseQRankSum
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FS
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MQ
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QD
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VQSLOD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 820
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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East Asian
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South Asian
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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MQ
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DP
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MQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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SIO_000300: -9.2e-2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.597750367482585e-5
allele num: 62588
num of homozygotes: 0

South Asian
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allele frequency: 1.248595330253465e-4
allele num: 16018
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Latino
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allele frequency: 0.0e0
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African
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European (Finnish)
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QD
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InbreedingCoeff
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ClippingRankSum
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DP
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MQ
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -1.774e0

FS
type: SiteQuality
SIO_000300: 7.14e0

VQSLOD
type: SiteQuality
SIO_000300: 1.58e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.596831885539091e-5
allele num: 62624
num of homozygotes: 0

European (Finnish)
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allele frequency: 3.386386725364037e-4
allele num: 5906
num of homozygotes: 0

Latino
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allele frequency: 8.97021887334051e-5
allele num: 11148
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East Asian
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African
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South Asian
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Other
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MQ
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MQRankSum
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ReadPosRankSum
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FS
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 830
num of homozygotes: 0

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

European (Finnish)
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allele frequency: 0.0e0
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Latino
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South Asian
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African
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InbreedingCoeff
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BaseQRankSum
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FS
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MQ
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VQSLOD
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MQRankSum
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QD
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ClippingRankSum
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

African
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East Asian
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European (Non-Finnish)
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allele num: 62774
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Latino
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Other
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South Asian
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QD
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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MQRankSum
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MQ
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DP
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ClippingRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
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num of homozygotes: 0

Other
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.58856235107228e-5
allele num: 62950
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European (Finnish)
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Latino
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South Asian
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BaseQRankSum
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DP
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MQRankSum
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FS
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MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.61e-1

QD
type: SiteQuality
SIO_000300: 1.107e1

GenotypeQuality
all individuals: 1009
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 902
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 643
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42064
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4707
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 298
bin: 9.75e1
variant carriers: 39

GenotypeQuality
all individuals: 1082
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4261
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 593
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 5.402313461294012e-4
allele num: 62936
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.679543164259321e-4
allele num: 5954
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.085070892410342e-4
allele num: 9592
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.936550491510277e-5
allele num: 11190
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.2625250501002e-5
allele num: 15968
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.196172248803828e-3
allele num: 836
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.454e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

DP
type: SiteQuality
SIO_000300: 1.366923e6

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

GenotypeQuality
all individuals: 298
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 902
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4707
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1294
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 565
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4261
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 229
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1082
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42064
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 987
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.588915723910004e-5
allele num: 62936
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5954
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11190
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.170141784820684e-4
allele num: 9592
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.4e-2

FS
type: SiteQuality
SIO_000300: 2.454e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

DP
type: SiteQuality
SIO_000300: 1.366923e6

GenotypeQuality
all individuals: 1050
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42398
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4251
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4686
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 138
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5962
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62910
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.934953538241601e-5
allele num: 11192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15948
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.67e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 1.568e0

VQSLOD
type: SiteQuality
SIO_000300: -1.444e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 1.369461e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

GenotypeQuality
all individuals: 415
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 641
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4251
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 932
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1197
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4686
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 451
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 602
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1267
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42398
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5962
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62910
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.270378730875344e-5
allele num: 15948
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9592
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.568e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

DP
type: SiteQuality
SIO_000300: 1.369461e6

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.444e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.67e-1

QD
type: SiteQuality
SIO_000300: 5.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 537
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1178
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4746
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42126
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 780
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 254
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 924
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4316
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 671
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1233
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.928571428571429e-5
allele num: 11200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15930
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62940
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5960
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.023e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.466e-1

DP
type: SiteQuality
SIO_000300: 1.367533e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 1.68e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.854e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.738e0

MQ
type: SiteQuality
SIO_000300: 5.903e1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

GenotypeQuality
all individuals: 894
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 42983
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 525
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 255
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 694
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1096
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1093
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4385
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 811
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 761
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 455
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4844
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15792
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.036699149906697e-4
allele num: 9646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5984
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11192
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62950
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.98e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.67e-1

FS
type: SiteQuality
SIO_000300: 3.093e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.17e0

DP
type: SiteQuality
SIO_000300: 1.369659e6

QD
type: SiteQuality
SIO_000300: 1.217e1

GenotypeQuality
all individuals: 1047
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 42496
bin: 6.25e1
variant carriers: 5

GenotypeQuality
all individuals: 210
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 49
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 385
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4876
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 476
bin: 5.75e1
variant carriers: 6

GenotypeQuality
all individuals: 65
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 815
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 717
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 4.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1490
bin: 9.75e1
variant carriers: 1255

GenotypeQuality
all individuals: 71
bin: 9.25e1
variant carriers: 5

GenotypeQuality
all individuals: 795
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 605
bin: 7.75e1
variant carriers: 2

GenotypeQuality
all individuals: 82
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4136
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 101
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 752
bin: 5.25e1
variant carriers: 3

Other
type: Population
allele count: 10
allele frequency: 1.201923076923077e-2
allele num: 832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

South Asian
type: Population
allele count: 67
allele frequency: 4.265885648796638e-3
allele num: 15706
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 21
allele frequency: 3.507014028056112e-3
allele num: 5988
num of homozygotes: 0

African
type: Population
allele count: 18
allele frequency: 1.867607387424777e-3
allele num: 9638
num of homozygotes: 0

Latino
type: Population
allele count: 58
allele frequency: 5.185052744502056e-3
allele num: 11186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1129
allele frequency: 1.794227957536075e-2
allele num: 62924
num of homozygotes: 20

BaseQRankSum
type: SiteQuality
SIO_000300: 8.080000000000001e-1

FS
type: SiteQuality
SIO_000300: 5.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.35e0

QD
type: SiteQuality
SIO_000300: 1.295e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.87e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.382722e6

GenotypeQuality
all individuals: 97
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 774
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 809
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5636
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 9.75e1
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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bin: 6.75e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11184
num of homozygotes: 0

South Asian
type: Population
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allele frequency: 6.491820306413918e-5
allele num: 15404
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9624
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6002
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62620
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

DP
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SIO_000300: 1.357427e6

VQSLOD
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FS
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InbreedingCoeff
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QD
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MQ
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.649999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.64e-1

GenotypeQuality
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variant carriers: 1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9514
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.191895113230036e-4
allele num: 8390
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 812
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61942
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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.543e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.52e-1

MQRankSum
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FS
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VQSLOD
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MQ
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QD
type: SiteQuality
SIO_000300: 2.964e1

ReadPosRankSum
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SIO_000300: 3.06e-1

DP
type: SiteQuality
SIO_000300: 1.325332e6

InbreedingCoeff
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SIO_000300: -2.0e-3

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5890
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8346
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9262
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.087172218284904e-5
allele num: 14110
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11062
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61248
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -2.0e-3

MQRankSum
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VQSLOD
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DP
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ReadPosRankSum
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SIO_000300: 1.17e-1

BaseQRankSum
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SIO_000300: -1.5e0

FS
type: SiteQuality
SIO_000300: 4.561e0

MQ
type: SiteQuality
SIO_000300: 5.816e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

QD
type: SiteQuality
SIO_000300: 1.053e1

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8236
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5756
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9096
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 778
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.319832680432906e-5
allele num: 60244
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 13078
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.23e-1

VQSLOD
type: SiteQuality
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ClippingRankSum
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SIO_000300: 1.62e0

BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 7.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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InbreedingCoeff
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SIO_000300: -2.4e-3

FS
type: SiteQuality
SIO_000300: 2.749e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

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
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10874
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.103509159126021e-4
allele num: 9062
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12556
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 59854
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.675e0

MQRankSum
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DP
type: SiteQuality
SIO_000300: 1.252452e6

BaseQRankSum
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SIO_000300: -3.645e0

InbreedingCoeff
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SIO_000300: -2.5e-3

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 2.354e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.83e-1

VQSLOD
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QD
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10680
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.701201047939846e-5
allele num: 58782
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5552
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African
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
type: Population
allele count: 0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.704681054174764e-5
allele num: 58662
num of homozygotes: 0

South Asian
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African
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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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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.23e0

DP
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MQ
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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QD
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ClippingRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7954
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5516
num of homozygotes: 0

African
type: Population
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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

Latino
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allele frequency: 0.0e0
allele num: 10632
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.707242121077611e-5
allele num: 58574
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: -2.5e-3

BaseQRankSum
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SIO_000300: 2.29e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

DP
type: SiteQuality
SIO_000300: 1.201348e6

QD
type: SiteQuality
SIO_000300: 1.171e1

MQRankSum
type: SiteQuality
SIO_000300: 2.18e0

MQ
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SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.592e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e-1

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7838
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8820
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10544
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 9.072763563781528e-5
allele num: 11022
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 738
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57962
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5470
num of homozygotes: 0

QD
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VQSLOD
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InbreedingCoeff
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FS
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BaseQRankSum
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SIO_000300: -6.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.28e-1

ClippingRankSum
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MQRankSum
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DP
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SIO_000300: 1.176722e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8744
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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7754
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10476
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5420
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.740644038294169e-5
allele num: 57450
num of homozygotes: 0

VQSLOD
type: SiteQuality
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QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
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SIO_000300: -3.7e-3

BaseQRankSum
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SIO_000300: -2.262e0

MQ
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SIO_000300: 3.7e1

MQRankSum
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SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.154069e6

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10328
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56782
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5366
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7598
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.754e0

DP
type: SiteQuality
SIO_000300: 1.117482e6

QD
type: SiteQuality
SIO_000300: 7.66e0

VQSLOD
type: SiteQuality
SIO_000300: -6.65e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7498
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.333722287047841e-4
allele num: 8570
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10214
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5312
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-3

BaseQRankSum
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SIO_000300: -7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.08821e6

FS
type: SiteQuality
SIO_000300: 8.568e0

VQSLOD
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SIO_000300: 8.34e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ReadPosRankSum
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QD
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MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 650
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.671745915182669e-5
allele num: 54470
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8330
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 1.011326860841424e-4
allele num: 9888
num of homozygotes: 0

South Asian
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allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.53e-1

FS
type: SiteQuality
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MQRankSum
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QD
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DP
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VQSLOD
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InbreedingCoeff
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MQ
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BaseQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 count: 0
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allele num: 620
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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South Asian
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allele num: 7538
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Latino
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East Asian
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allele frequency: 0.0e0
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African
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MQ
type: SiteQuality
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QD
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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DP
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VQSLOD
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ReadPosRankSum
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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European (Non-Finnish)
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allele num: 51416
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South Asian
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African
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East Asian
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Latino
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MQRankSum
type: SiteQuality
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FS
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QD
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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ReadPosRankSum
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DP
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MQ
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7802
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4822
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9224
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7026
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.96209237530903e-5
allele num: 50966
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.93e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 9.92e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.208e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.68e-1

DP
type: SiteQuality
SIO_000300: 8.22325e5

GenotypeQuality
all individuals: 237
bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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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bin: 3.25e1
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GenotypeQuality
all individuals: 128
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1159
bin: 4.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 618
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4820
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.961015021375064e-5
allele num: 50994
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7816
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.944e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

QD
type: SiteQuality
SIO_000300: 1.219e1

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.889e0

FS
type: SiteQuality
SIO_000300: 1.4799e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.27e-1

DP
type: SiteQuality
SIO_000300: 8.21447e5

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6952
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.633986928104575e-3
allele num: 612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7778
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 50768
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4788
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.89e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.448e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.66e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.15712e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.900000000000001e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -4.184e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

GenotypeQuality
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bin: 2.5e0
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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 244
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variant carriers: 3

GenotypeQuality
all individuals: 389
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6766
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4744
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.991476480662764e-5
allele num: 50214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.615062761506276e-4
allele num: 7648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9078
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.84e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.01332e5

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

QD
type: SiteQuality
SIO_000300: 1.595e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

GenotypeQuality
all individuals: 5988
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 21280
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GenotypeQuality
all individuals: 68
bin: 8.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7648
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4744
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6766
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9078
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.991476480662764e-5
allele num: 50214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.01332e5

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.84e0

MQRankSum
type: SiteQuality
SIO_000300: -2.67e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.09e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 1.595e1

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

GenotypeQuality
all individuals: 630
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3630
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
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variant carriers: 0

GenotypeQuality
all individuals: 1815
bin: 4.25e1
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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: 7.5e0
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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: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 237
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GenotypeQuality
all individuals: 8095
bin: 3.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4460
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5790
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 47272
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.372872048325096e-4
allele num: 7284
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 562
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6114
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.249e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.477e0

FS
type: SiteQuality
SIO_000300: 3.222e0

DP
type: SiteQuality
SIO_000300: 7.68974e5

MQ
type: SiteQuality
SIO_000300: 5.787e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.08e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

GenotypeQuality
all individuals: 8165
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 5257
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 14816
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GenotypeQuality
all individuals: 1475
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 243
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variant carriers: 2

GenotypeQuality
all individuals: 1877
bin: 4.25e1
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GenotypeQuality
all individuals: 63
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GenotypeQuality
all individuals: 2189
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 542
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 3.362474781439139e-4
allele num: 5948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 45544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4306
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5466
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8140
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.8e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.100000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.46e-1

DP
type: SiteQuality
SIO_000300: 7.65687e5

VQSLOD
type: SiteQuality
SIO_000300: 4.02e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.254e1

GenotypeQuality
all individuals: 4573
bin: 3.25e1
variant carriers: 3411

GenotypeQuality
all individuals: 2746
bin: 2.75e1
variant carriers: 1853

GenotypeQuality
all individuals: 972
bin: 6.75e1
variant carriers: 899

GenotypeQuality
all individuals: 859
bin: 8.75e1
variant carriers: 851

GenotypeQuality
all individuals: 911
bin: 9.25e1
variant carriers: 900

GenotypeQuality
all individuals: 5698
bin: 2.25e1
variant carriers: 2860

GenotypeQuality
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bin: 2.5e0
variant carriers: 262

GenotypeQuality
all individuals: 2906
bin: 1.75e1
variant carriers: 2133

GenotypeQuality
all individuals: 4050
bin: 3.75e1
variant carriers: 3384

GenotypeQuality
all individuals: 702
bin: 8.25e1
variant carriers: 676

GenotypeQuality
all individuals: 1646
bin: 1.25e1
variant carriers: 1034

GenotypeQuality
all individuals: 17735
bin: 9.75e1
variant carriers: 17707

GenotypeQuality
all individuals: 2219
bin: 5.25e1
variant carriers: 2110

GenotypeQuality
all individuals: 1063
bin: 5.75e1
variant carriers: 1040

GenotypeQuality
all individuals: 488
bin: 7.25e1
variant carriers: 456

GenotypeQuality
all individuals: 2935
bin: 4.75e1
variant carriers: 2684

African
type: Population
allele count: 3741
allele frequency: 5.184312638580931e-1
allele num: 7216
num of homozygotes: 926

East Asian
type: Population
allele count: 1908
allele frequency: 3.573033707865169e-1
allele num: 5340
num of homozygotes: 322

European (Finnish)
type: Population
allele count: 3018
allele frequency: 6.806495263870095e-1
allele num: 4434
num of homozygotes: 991

European (Non-Finnish)
type: Population
allele count: 34601
allele frequency: 7.493611123142895e-1
allele num: 46174
num of homozygotes: 12797

Latino
type: Population
allele count: 3157
allele frequency: 3.986111111111111e-1
allele num: 7920
num of homozygotes: 634

Other
type: Population
allele count: 363
allele frequency: 6.797752808988764e-1
allele num: 534
num of homozygotes: 124

South Asian
type: Population
allele count: 3488
allele frequency: 5.673389720234222e-1
allele num: 6148
num of homozygotes: 981

QD
type: SiteQuality
SIO_000300: 2.714e1

MQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.75e0

DP
type: SiteQuality
SIO_000300: 7.86194e5

ClippingRankSum
type: SiteQuality
SIO_000300: -6.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.373e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 243
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 915
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 539
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1594
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1843
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3833
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15863
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variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 588
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variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 5.25e1
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GenotypeQuality
all individuals: 16655
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variant carriers: 2

GenotypeQuality
all individuals: 85
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GenotypeQuality
all individuals: 43
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GenotypeQuality
all individuals: 7630
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1887
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9838
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.110323162576591e-5
allele num: 64302
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 4.161e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

QD
type: SiteQuality
SIO_000300: 1.229e1

VQSLOD
type: SiteQuality
SIO_000300: 5.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 8.73e-1

DP
type: SiteQuality
SIO_000300: 2.466084e6

GenotypeQuality
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variant carriers: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 818
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64288
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10438
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.016880211511084e-4
allele num: 9834
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

FS
type: SiteQuality
SIO_000300: 1.1681e1

DP
type: SiteQuality
SIO_000300: 2.46617e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

MQRankSum
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
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variant carriers: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 10476
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9850
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555258328408349e-5
allele num: 64298
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.13e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.17e-1

DP
type: SiteQuality
SIO_000300: 2.467639e6

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 5.951e1

QD
type: SiteQuality
SIO_000300: 9.949999999999999e0

FS
type: SiteQuality
SIO_000300: 1.3224e1

VQSLOD
type: SiteQuality
SIO_000300: -1.036e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.83e-1

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

African
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allele count: 1
allele frequency: 1.010713563776026e-4
allele num: 9894
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10886
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64498
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.36e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.074e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.106e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

QD
type: SiteQuality
SIO_000300: 1.119e1

DP
type: SiteQuality
SIO_000300: 2.47471e6

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 1
allele frequency: 1.010509296685529e-4
allele num: 9896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10918
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64510
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.72e-1

DP
type: SiteQuality
SIO_000300: 2.475286e6

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

MQRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

FS
type: SiteQuality
SIO_000300: 4.585e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.55e-1

QD
type: SiteQuality
SIO_000300: 1.158e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.5485149741398e-5
allele num: 64578
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8604
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South Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.288e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 6.21e-1

DP
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.444e0

ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11516
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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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: 1
allele frequency: 1.54659902873581e-5
allele num: 64658
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9938
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele num: 64910
num of homozygotes: 0

Latino
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num of homozygotes: 0

African
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Other
type: Population
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11982
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.488418e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 6.269e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.372e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.254e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-1

GenotypeQuality
all individuals: 269
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3844
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1847
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9988
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.298755186721991e-5
allele num: 12050
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64948
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.164e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

QD
type: SiteQuality
SIO_000300: 8.529999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -5.327e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.489208e6

GenotypeQuality
all individuals: 545
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 15

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7714
bin: 6.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 844
num of homozygotes: 0

African
type: Population
allele count: 15
allele frequency: 1.501501501501501e-3
allele num: 9990
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12100
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.490246e6

MQ
type: SiteQuality
SIO_000300: 5.958e1

FS
type: SiteQuality
SIO_000300: 1.118e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.13e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

MQRankSum
type: SiteQuality
SIO_000300: 1.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.637e0

QD
type: SiteQuality
SIO_000300: 1.249e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.38e-1

GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 167
bin: 4.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10042
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.528444349341241e-5
allele num: 65426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.47e-1

FS
type: SiteQuality
SIO_000300: 5.19e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.320000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.287e1

DP
type: SiteQuality
SIO_000300: 2.502923e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.24e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e-1

GenotypeQuality
all individuals: 134
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7726
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1603
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17525
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 4.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10060
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526764176005374e-5
allele num: 65498
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 6.52e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.42e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

MQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 5.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.5e-1

DP
type: SiteQuality
SIO_000300: 2.506489e6

QD
type: SiteQuality
SIO_000300: 1.237e1

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
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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
all individuals: 67
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 90

South Asian
type: Population
allele count: 1
allele frequency: 7.284382284382284e-5
allele num: 13728
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.198405822214521e-4
allele num: 11542
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.152073732718894e-3
allele num: 868
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10088
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 65
allele frequency: 9.91700231905285e-4
allele num: 65544
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 18
allele frequency: 2.721499848805564e-3
allele num: 6614
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.51063e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.44e0

VQSLOD
type: SiteQuality
SIO_000300: 5.13e0

QD
type: SiteQuality
SIO_000300: 1.249e1

GenotypeQuality
all individuals: 16588
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 303
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14044
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 2.224e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.128e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQRankSum
type: SiteQuality
SIO_000300: 5.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 5.975e1

DP
type: SiteQuality
SIO_000300: 2.506529e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10166
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522579859313621e-5
allele num: 65678
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 878
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.120478496154942e-5
allele num: 14044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.224e0

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

QD
type: SiteQuality
SIO_000300: 1.128e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.8e0

MQRankSum
type: SiteQuality
SIO_000300: 5.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

DP
type: SiteQuality
SIO_000300: 2.506529e6

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 7.5e0
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GenotypeQuality
all individuals: 115
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 414
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GenotypeQuality
all individuals: 87
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GenotypeQuality
all individuals: 111
bin: 4.75e1
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GenotypeQuality
all individuals: 1898
bin: 2.25e1
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GenotypeQuality
all individuals: 7848
bin: 6.75e1
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
all individuals: 264
bin: 3.75e1
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GenotypeQuality
all individuals: 2874
bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
all individuals: 3875
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16587
bin: 9.75e1
variant carriers: 9

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65744
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.40666760444507e-4
allele num: 14218
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.329004329004329e-4
allele num: 11550
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.815469179426777e-5
allele num: 10188
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.6e-2

DP
type: SiteQuality
SIO_000300: 2.509534e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.15e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.65e-1

QD
type: SiteQuality
SIO_000300: 1.149e1

GenotypeQuality
all individuals: 7881
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variant carriers: 0

GenotypeQuality
all individuals: 1695
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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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variant carriers: 0

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

GenotypeQuality
all individuals: 1609
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16580
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65838
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.314814814814815e-4
allele num: 8640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10196
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14488
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.513361e6

FS
type: SiteQuality
SIO_000300: 2.554e0

VQSLOD
type: SiteQuality
SIO_000300: -9.2e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.52e-1

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 2882
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3892
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.788566953797964e-5
allele num: 10216
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14662
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.062279956294768e-4
allele num: 65896
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
SIO_000300: 1.729e0

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-3

QD
type: SiteQuality
SIO_000300: 1.275e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.78e0

DP
type: SiteQuality
SIO_000300: 2.516374e6

GenotypeQuality
all individuals: 1152
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2892
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 57
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GenotypeQuality
all individuals: 19663
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15192
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.513317191283293e-5
allele num: 66080
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 9.340000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.22e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.71e-1

DP
type: SiteQuality
SIO_000300: 2.524482e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.325e1

FS
type: SiteQuality
SIO_000300: 1.108e0

GenotypeQuality
all individuals: 133
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
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variant carriers: 0

GenotypeQuality
all individuals: 70
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variant carriers: 0

GenotypeQuality
all individuals: 19
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 80
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2902
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GenotypeQuality
all individuals: 3905
bin: 7.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 9
allele frequency: 5.820721769499418e-4
allele num: 15462
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66198
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.530573e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.45e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

FS
type: SiteQuality
SIO_000300: 1.127e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.89e-1

QD
type: SiteQuality
SIO_000300: 1.148e1

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

GenotypeQuality
all individuals: 65
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variant carriers: 0

GenotypeQuality
all individuals: 8050
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variant carriers: 0

GenotypeQuality
all individuals: 20063
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 149
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GenotypeQuality
all individuals: 4
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GenotypeQuality
all individuals: 79
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variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15664
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.64e0

FS
type: SiteQuality
SIO_000300: 6.536e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 2.533549e6

VQSLOD
type: SiteQuality
SIO_000300: -1.942e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.543e0

QD
type: SiteQuality
SIO_000300: 1.289e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.026e0

GenotypeQuality
all individuals: 2935
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16140
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.983000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 5.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.57e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-2

FS
type: SiteQuality
SIO_000300: 2.326e0

DP
type: SiteQuality
SIO_000300: 2.541247e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.94e-1

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.08e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 55

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 5.806077027288562e-4
allele num: 10334
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.108647450110865e-3
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 35
allele frequency: 5.268228069119152e-4
allele num: 66436
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.592464569650881e-4
allele num: 11572
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.180469715698393e-4
allele num: 16180
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.967e1

MQRankSum
type: SiteQuality
SIO_000300: 1.99e-1

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 2.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.27e-1

QD
type: SiteQuality
SIO_000300: 1.34e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.542912e6

GenotypeQuality
all individuals: 4141
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 16550
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.659969088098918e-5
allele num: 10352
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66474
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.796e0

DP
type: SiteQuality
SIO_000300: 2.541337e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

VQSLOD
type: SiteQuality
SIO_000300: -2.724e0

MQ
type: SiteQuality
SIO_000300: 5.344e1

QD
type: SiteQuality
SIO_000300: 7.81e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.723e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4