14-60592337-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592337
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592337
    reference: chr 14
allele count: 1
allele frequency: 5.297171310520182e-5
allele num: 18878
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.702-18G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1794-18G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.267-18G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3081-18G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2379-18G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.409-18G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3081-18G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2379-18G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1389-18G>A
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2615
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20581
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28064
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1062
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25910
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

14-60592342-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592342
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592342
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 20418
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1794-13C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.267-13C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3081-13C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1389-13C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3081-13C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2379-13C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.409-13C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.702-13C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2379-13C>T
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2310
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24607
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23877
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1542
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4216
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

14-60592344-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592344
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592345
    reference: chr 14
allele count: 2
allele frequency: 9.83574309039048e-5
allele num: 20334
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2379-3dupT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.409-3dupT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1389-3dupT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1794-3dupT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.267-3dupT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3081-3dupT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2379-3dupT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3081-3dupT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.702-3dupT
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24731
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

14-60592344-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592344
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592343
    reference: chr 14
allele count: 3
allele frequency: 1.475361463558572e-4
allele num: 20334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1389-3delT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3081-3delT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.702-3delT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.409-3delT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2379-3delT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.267-3delT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2379-3delT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3081-3delT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1794-3delT
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24731
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 898
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3381
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21118
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1703
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3913
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 402
  bin: 3.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: AT
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

14-60592353-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592353
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592353
    reference: chr 14
allele count: 0
allele frequency: 0.0e0
allele num: 25178
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.409-2A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2379-2A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3081-2A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2379-2A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.267-2A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3081-2A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1389-2A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1794-2A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.702-2A>G
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: splice acceptor
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 797
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28089
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18569
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1017
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
hgvs: c.2379-2A>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

14-60592368-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592368
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592368
    reference: chr 14
allele count: 3
allele frequency: 9.165342783820114e-5
allele num: 32732
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3094C>T
  hgvsp: ENST00000406854.1:c.3094C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3094C>T
  hgvsp: ENST00000404681.2:c.3094C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2392C>T
  hgvsp: ENST00000406949.1:c.2392C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1807C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.280C>T
  hgvsp: ENSP00000452234.1:p.Thr94Ile
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.715C>T
  hgvsp: ENST00000535349.1:c.715C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2392C>T
  hgvsp: ENST00000317623.4:c.2392C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*3C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1402C>T
  hgvsp: ENST00000555740.1:c.1402C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7060
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3523
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10586
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33110
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr94Ile
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

14-60592390-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592390
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592390
    reference: chr 14
allele count: 2
allele frequency: 4.358058049333217e-5
allele num: 45892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3116T>C
  hgvsp: ENSP00000385713.2:p.Leu1039Ser
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2414T>C
  hgvsp: ENSP00000317396.4:p.Leu805Ser
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1424T>C
  hgvsp: ENSP00000450441.1:p.Leu475Ser
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*25T>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3116T>C
  hgvsp: ENSP00000384801.1:p.Leu1039Ser
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.737T>C
  hgvsp: ENSP00000445644.1:p.Leu246Ser
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2414T>C
  hgvsp: ENSP00000385201.1:p.Leu805Ser
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1829T>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*12T>C
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2926
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3907
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3927
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1129
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu805Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP

14-60592395-C-CTAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592395
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592398
    reference: chr 14
allele count: 916
allele frequency: 1.792002504108303e-2
allele num: 51116
alternate allele: CTAT
annotation: Annotation
  canonical: true
  consequence: protein_altering_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2419_2420insTAT
  hgvsp: ENSP00000317396.4:p.Pro807delinsLeuSer
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.742_743insTAT
  hgvsp: ENSP00000445644.1:p.Pro248delinsLeuSer
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1429_1430insTAT
  hgvsp: ENSP00000450441.1:p.Pro477delinsLeuSer
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2419_2420insTAT
  hgvsp: ENSP00000385201.1:p.Pro807delinsLeuSer
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*17_*18insTAT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3121_3122insTAT
  hgvsp: ENSP00000384801.1:p.Pro1041delinsLeuSer
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: protein_altering_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3121_3122insTAT
  hgvsp: ENSP00000385713.2:p.Pro1041delinsLeuSer
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*30_*31insTAT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1834_1835insTAT
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: protein altering
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 3.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 31759
  bin: 7.5e0
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 4.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 13376
  bin: 2.25e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 9.75e1
  variant carriers: 83
genotype depth: GenotypeDepth
  all individuals: 4630
  bin: 1.25e1
  variant carriers: 251
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 2.75e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 5.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 1.75e1
  variant carriers: 197
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31092
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro807delinsLeuSer
num of homozygotes: 22
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

14-60592400-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592400
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592400
    reference: chr 14
allele count: 1
allele frequency: 1.811791136717759e-5
allele num: 55194
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.747A>G
  hgvsp: ENSP00000445644.1:p.Ile249Met
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*35A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*22A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2424A>G
  hgvsp: ENSP00000317396.4:p.Ile808Met
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1839A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3126A>G
  hgvsp: ENSP00000385713.2:p.Ile1042Met
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2424A>G
  hgvsp: ENSP00000385201.1:p.Ile808Met
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1434A>G
  hgvsp: ENSP00000450441.1:p.Ile478Met
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3126A>G
  hgvsp: ENSP00000384801.1:p.Ile1042Met
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1683
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4779
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29744
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ile808Met
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

14-60592406-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592406
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592407
    reference: chr 14
allele count: 1
allele frequency: 1.671011296036361e-5
allele num: 59844
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2433dupT
  hgvsp: ENSP00000385201.1:p.Arg812Ter
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3135dupT
  hgvsp: ENSP00000385713.2:p.Arg1046Ter
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.756dupT
  hgvsp: ENSP00000445644.1:p.Arg253Ter
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2433dupT
  hgvsp: ENSP00000317396.4:p.Arg812Ter
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1443dupT
  hgvsp: ENSP00000450441.1:p.Arg482Ter
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3135dupT
  hgvsp: ENSP00000384801.1:p.Arg1046Ter
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1848dupT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*31dupT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*44dupT
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3881
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4916
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1639
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16445
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28739
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1091
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg812Ter
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

14-60592415-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592415
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592415
    reference: chr 14
allele count: 15
allele frequency: 2.154058245734965e-4
allele num: 69636
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3141A>G
  hgvsp: ENST00000406854.1:c.3141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2439A>G
  hgvsp: ENST00000317623.4:c.2439A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3141A>G
  hgvsp: ENST00000404681.2:c.3141A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1449A>G
  hgvsp: ENST00000555740.1:c.1449A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2439A>G
  hgvsp: ENST00000406949.1:c.2439A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*50A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*37A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1854A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.762A>G
  hgvsp: ENST00000535349.1:c.762A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4585
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 21122
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 459
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Glu813Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

14-60592416-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592416
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592416
    reference: chr 14
allele count: 1
allele frequency: 1.416029453412631e-5
allele num: 70620
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1855C>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2440C>G
  hgvsp: ENSP00000317396.4:p.Leu814Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.763C>G
  hgvsp: ENSP00000445644.1:p.Leu255Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*51C>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3142C>G
  hgvsp: ENSP00000384801.1:p.Leu1048Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1450C>G
  hgvsp: ENSP00000450441.1:p.Leu484Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3142C>G
  hgvsp: ENSP00000385713.2:p.Leu1048Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2440C>G
  hgvsp: ENSP00000385201.1:p.Leu814Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*38C>G
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24191
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4538
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21657
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1763
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23640
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24426
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu814Val
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

14-60592421-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592421
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592421
    reference: chr 14
allele count: 3
allele frequency: 3.887420307883688e-5
allele num: 77172
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2445T>A
  hgvsp: ENST00000317623.4:c.2445T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1455T>A
  hgvsp: ENST00000555740.1:c.1455T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3147T>A
  hgvsp: ENST00000404681.2:c.3147T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.768T>A
  hgvsp: ENST00000535349.1:c.768T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2445T>A
  hgvsp: ENST00000406949.1:c.2445T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1860T>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*43T>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3147T>A
  hgvsp: ENST00000406854.1:c.3147T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*56T>A
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4193
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24935
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1620
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27225
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ile815Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQ

14-60592428-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592428
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592428
    reference: chr 14
allele count: 91
allele frequency: 1.06100177222274e-3
allele num: 85768
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2452C>T
  hgvsp: ENSP00000385201.1:p.Leu818Phe
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2452C>T
  hgvsp: ENSP00000317396.4:p.Leu818Phe
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1867C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3154C>T
  hgvsp: ENSP00000385713.2:p.Leu1052Phe
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.775C>T
  hgvsp: ENSP00000445644.1:p.Leu259Phe
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1462C>T
  hgvsp: ENSP00000450441.1:p.Leu488Phe
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*63C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3154C>T
  hgvsp: ENSP00000384801.1:p.Leu1052Phe
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*50C>T
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1468
  bin: 1.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 17125
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5578
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 3608
  bin: 1.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29109
  bin: 2.25e1
  variant carriers: 23
genotype quality: GenotypeQuality
  all individuals: 31662
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu818Phe
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP

14-60592438-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592438
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592438
    reference: chr 14
allele count: 1
allele frequency: 1.031842664630497e-5
allele num: 96914
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1877A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2462A>G
  hgvsp: ENSP00000385201.1:p.Tyr821Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2462A>G
  hgvsp: ENSP00000317396.4:p.Tyr821Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1472A>G
  hgvsp: ENSP00000450441.1:p.Tyr491Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*60A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*73A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.785A>G
  hgvsp: ENSP00000445644.1:p.Tyr262Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3164A>G
  hgvsp: ENSP00000385713.2:p.Tyr1055Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3164A>G
  hgvsp: ENSP00000384801.1:p.Tyr1055Cys
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34503
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6677
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1370
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11844
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37989
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr821Cys
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

14-60592442-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592442
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592442
    reference: chr 14
allele count: 1
allele frequency: 9.920044441799099e-6
allele num: 100806
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1476A>T
  hgvsp: ENSP00000450441.1:p.Glu492Asp
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*64A>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3168A>T
  hgvsp: ENSP00000385713.2:p.Glu1056Asp
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.789A>T
  hgvsp: ENSP00000445644.1:p.Glu263Asp
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2466A>T
  hgvsp: ENSP00000317396.4:p.Glu822Asp
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2466A>T
  hgvsp: ENSP00000385201.1:p.Glu822Asp
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3168A>T
  hgvsp: ENSP00000384801.1:p.Glu1056Asp
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*77A>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1881A>T
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10399
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu822Asp
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

14-60592443-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592443
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592443
    reference: chr 14
allele count: 5
allele frequency: 4.915164264789729e-5
allele num: 101726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*78C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2467C>T
  hgvsp: ENSP00000317396.4:p.Arg823Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.790C>T
  hgvsp: ENSP00000445644.1:p.Arg264Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3169C>T
  hgvsp: ENSP00000385713.2:p.Arg1057Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2467C>T
  hgvsp: ENSP00000385201.1:p.Arg823Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1882C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3169C>T
  hgvsp: ENSP00000384801.1:p.Arg1057Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1477C>T
  hgvsp: ENSP00000450441.1:p.Arg493Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*65C>T
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36684
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2164
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7392
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9438
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9885
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg823Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ

14-60592444-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592444
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592444
    reference: chr 14
allele count: 4
allele frequency: 3.874767513949163e-5
allele num: 103232
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3170G>A
  hgvsp: ENSP00000384801.1:p.Arg1057His
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2468G>A
  hgvsp: ENSP00000317396.4:p.Arg823His
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3170G>A
  hgvsp: ENSP00000385713.2:p.Arg1057His
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.791G>A
  hgvsp: ENSP00000445644.1:p.Arg264His
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1883G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*79G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1478G>A
  hgvsp: ENSP00000450441.1:p.Arg493His
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*66G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2468G>A
  hgvsp: ENSP00000385201.1:p.Arg823His
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7576
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2015
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37379
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9167
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg823His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

14-60592452-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592452
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592452
    reference: chr 14
allele count: 1
allele frequency: 9.201324990798676e-6
allele num: 108680
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.799T>C
  hgvsp: ENSP00000445644.1:p.Tyr267His
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*74T>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*87T>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3178T>C
  hgvsp: ENSP00000385713.2:p.Tyr1060His
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1486T>C
  hgvsp: ENSP00000450441.1:p.Tyr496His
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1891T>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2476T>C
  hgvsp: ENSP00000317396.4:p.Tyr826His
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3178T>C
  hgvsp: ENSP00000384801.1:p.Tyr1060His
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2476T>C
  hgvsp: ENSP00000385201.1:p.Tyr826His
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8577
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39616
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Tyr826His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD

14-60592455-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592455
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592455
    reference: chr 14
allele count: 2
allele frequency: 1.812316502954076e-5
allele num: 110356
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2479A>G
  hgvsp: ENSP00000317396.4:p.Ile827Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1894A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*90A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3181A>G
  hgvsp: ENSP00000385713.2:p.Ile1061Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*77A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.802A>G
  hgvsp: ENSP00000445644.1:p.Ile268Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1489A>G
  hgvsp: ENSP00000450441.1:p.Ile497Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3181A>G
  hgvsp: ENSP00000384801.1:p.Ile1061Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2479A>G
  hgvsp: ENSP00000385201.1:p.Ile827Val
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40502
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8807
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile827Val
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

14-60592491-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592491
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592491
    reference: chr 14
allele count: 430
allele frequency: 3.682641910177795e-3
allele num: 116764
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1525A>G
  hgvsp: ENSP00000450441.1:p.Ile509Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.838A>G
  hgvsp: ENSP00000445644.1:p.Ile280Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3217A>G
  hgvsp: ENSP00000385713.2:p.Ile1073Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2515A>G
  hgvsp: ENSP00000317396.4:p.Ile839Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3217A>G
  hgvsp: ENSP00000384801.1:p.Ile1073Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*126A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*113A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2515A>G
  hgvsp: ENSP00000385201.1:p.Ile839Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1930A>G
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10498
  bin: 2.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 3.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 64
genotype depth: GenotypeDepth
  all individuals: 42485
  bin: 2.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile839Val
num of homozygotes: 2
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-60592491-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592491
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592491
    reference: chr 14
allele count: 1
allele frequency: 8.564283512041383e-6
allele num: 116764
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2515A>C
  hgvsp: ENSP00000385201.1:p.Ile839Leu
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.838A>C
  hgvsp: ENSP00000445644.1:p.Ile280Leu
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1930A>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*126A>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2515A>C
  hgvsp: ENSP00000317396.4:p.Ile839Leu
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*113A>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1525A>C
  hgvsp: ENSP00000450441.1:p.Ile509Leu
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3217A>C
  hgvsp: ENSP00000385713.2:p.Ile1073Leu
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3217A>C
  hgvsp: ENSP00000384801.1:p.Ile1073Leu
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 42485
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10498
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ile839Leu
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

14-60592501-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592501
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592501
    reference: chr 14
allele count: 1
allele frequency: 8.584133088399403e-6
allele num: 116494
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3227A>G
  hgvsp: ENSP00000385713.2:p.Glu1076Gly
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1940A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2525A>G
  hgvsp: ENSP00000317396.4:p.Glu842Gly
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*123A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2525A>G
  hgvsp: ENSP00000385201.1:p.Glu842Gly
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.848A>G
  hgvsp: ENSP00000445644.1:p.Glu283Gly
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3227A>G
  hgvsp: ENSP00000384801.1:p.Glu1076Gly
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*136A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1535A>G
  hgvsp: ENSP00000450441.1:p.Glu512Gly
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10836
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu842Gly
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

14-60592508-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592508
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592508
    reference: chr 14
allele count: 3
allele frequency: 2.595380223202699e-5
allele num: 115590
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.855A>G
  hgvsp: ENST00000535349.1:c.855A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*143A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2532A>G
  hgvsp: ENST00000406949.1:c.2532A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1542A>G
  hgvsp: ENST00000555740.1:c.1542A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2532A>G
  hgvsp: ENST00000317623.4:c.2532A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3234A>G
  hgvsp: ENST00000404681.2:c.3234A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*130A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3234A>G
  hgvsp: ENST00000406854.1:c.3234A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1947A>G
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40692
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10846
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1800
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2768
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro844Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum

14-60592509-T-TAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592509
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592511
    reference: chr 14
allele count: 1
allele frequency: 8.664309974353643e-6
allele num: 115416
alternate allele: TAC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3236_3237dupAC
  hgvsp: ENSP00000384801.1:p.Leu1080ThrfsTer25
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*145_*146dupAC
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*132_*133dupAC
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3236_3237dupAC
  hgvsp: ENSP00000385713.2:p.Leu1080ThrfsTer25
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2534_2535dupAC
  hgvsp: ENSP00000317396.4:p.Leu846ThrfsTer25
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1949_1950dupAC
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.857_858dupAC
  hgvsp: ENSP00000445644.1:p.Leu287ThrfsTer39
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1544_1545dupAC
  hgvsp: ENSP00000450441.1:p.Leu516ThrfsTer39
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2534_2535dupAC
  hgvsp: ENSP00000385201.1:p.Leu846ThrfsTer18
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 618
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1802
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1908
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu846ThrfsTer25
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum

14-60592518-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592518
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592518
    reference: chr 14
allele count: 1
allele frequency: 8.812125484666902e-6
allele num: 113480
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2542T>C
  hgvsp: ENSP00000317396.4:p.Ser848Pro
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.865T>C
  hgvsp: ENSP00000445644.1:p.Ser289Pro
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1552T>C
  hgvsp: ENSP00000450441.1:p.Ser518Pro
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*153T>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2542T>C
  hgvsp: ENSP00000385201.1:p.Ser848Pro
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3244T>C
  hgvsp: ENSP00000385713.2:p.Ser1082Pro
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1957T>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*140T>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3244T>C
  hgvsp: ENSP00000384801.1:p.Ser1082Pro
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3757
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10684
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3160
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2621
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser848Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

14-60592519-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592519
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592519
    reference: chr 14
allele count: 1
allele frequency: 8.839857147908491e-6
allele num: 113124
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*154C>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.866C>G
  hgvsp: ENSP00000445644.1:p.Ser289Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3245C>G
  hgvsp: ENSP00000384801.1:p.Ser1082Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1958C>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2543C>G
  hgvsp: ENSP00000317396.4:p.Ser848Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3245C>G
  hgvsp: ENSP00000385713.2:p.Ser1082Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*141C>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2543C>G
  hgvsp: ENSP00000385201.1:p.Ser848Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1553C>G
  hgvsp: ENSP00000450441.1:p.Ser518Cys
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37962
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser848Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

14-60592519-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592519
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592519
    reference: chr 14
allele count: 7
allele frequency: 6.187900003535943e-5
allele num: 113124
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3245C>T
  hgvsp: ENSP00000385713.2:p.Ser1082Phe
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1958C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*141C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1553C>T
  hgvsp: ENSP00000450441.1:p.Ser518Phe
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3245C>T
  hgvsp: ENSP00000384801.1:p.Ser1082Phe
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2543C>T
  hgvsp: ENSP00000317396.4:p.Ser848Phe
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2543C>T
  hgvsp: ENSP00000385201.1:p.Ser848Phe
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.866C>T
  hgvsp: ENSP00000445644.1:p.Ser289Phe
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*154C>T
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3889
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37962
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10648
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6443
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser848Phe
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

14-60592526-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592526
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592526
    reference: chr 14
allele count: 1
allele frequency: 9.032118212363163e-6
allele num: 110716
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1965G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*148G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.873G>A
  hgvsp: ENST00000535349.1:c.873G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*161G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1560G>A
  hgvsp: ENST00000555740.1:c.1560G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3252G>A
  hgvsp: ENST00000406854.1:c.3252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3252G>A
  hgvsp: ENST00000404681.2:c.3252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2550G>A
  hgvsp: ENST00000406949.1:c.2550G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2550G>A
  hgvsp: ENST00000317623.4:c.2550G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4961
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35256
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43157
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8812
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly850Gly
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

14-60592534-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592534
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592534
    reference: chr 14
allele count: 1
allele frequency: 9.436454912618428e-6
allele num: 105972
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*169C>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2558C>G
  hgvsp: ENSP00000385201.1:p.Ser853Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*156C>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1568C>G
  hgvsp: ENSP00000450441.1:p.Ser523Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.881C>G
  hgvsp: ENSP00000445644.1:p.Ser294Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2558C>G
  hgvsp: ENSP00000317396.4:p.Ser853Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3260C>G
  hgvsp: ENSP00000384801.1:p.Ser1087Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1973C>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3260C>G
  hgvsp: ENSP00000385713.2:p.Ser1087Cys
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7128
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1671
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9679
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser853Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

14-60592536-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592536
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592536
    reference: chr 14
allele count: 1
allele frequency: 9.573408899440913e-6
allele num: 104456
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.883A>G
  hgvsp: ENSP00000445644.1:p.Asn295Asp
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1975A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1570A>G
  hgvsp: ENSP00000450441.1:p.Asn524Asp
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*158A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2560A>G
  hgvsp: ENSP00000317396.4:p.Asn854Asp
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*171A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3262A>G
  hgvsp: ENSP00000385713.2:p.Asn1088Asp
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2560A>G
  hgvsp: ENSP00000385201.1:p.Asn854Asp
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3262A>G
  hgvsp: ENSP00000384801.1:p.Asn1088Asp
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7886
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9979
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn854Asp
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ

14-60592556-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592556
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592556
    reference: chr 14
allele count: 6
allele frequency: 6.706458319361545e-5
allele num: 89466
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.1995T>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3267+15T>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1575+15T>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3267+15T>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*163+15T>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2565+15T>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.888+15T>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*176+15T>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+15T>A
  variant of: http://identifiers.org/hgnc/20349
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13356
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3574
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10870
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3998
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23684
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2002
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

14-60592564-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592564
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592564
    reference: chr 14
allele count: 1
allele frequency: 1.208576055691185e-5
allele num: 82742
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.888+23C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*163+23C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*176+23C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1575+23C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2565+23C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.2003C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+23C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3267+23C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3267+23C>T
  variant of: http://identifiers.org/hgnc/20349
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25702
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2591
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14679
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 426
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5888
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29413
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4269
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

14-60592565-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592565
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592565
    reference: chr 14
allele count: 2
allele frequency: 2.409174135106485e-5
allele num: 83016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*163+24T>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2565+24T>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.2004T>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1575+24T>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3267+24T>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*176+24T>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+24T>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.888+24T>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3267+24T>G
  variant of: http://identifiers.org/hgnc/20349
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14816
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4903
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25694
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7453
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5116
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: African
reference allele: T
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/14-60592569-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592569
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592569
    reference: chr 14
allele count: 1
allele frequency: 1.239249510496443e-5
allele num: 80694
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+28A>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*176+28A>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3267+28A>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*163+28A>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.888+28A>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1575+28A>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.2008A>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2565+28A>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3267+28A>C
  variant of: http://identifiers.org/hgnc/20349
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15477
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25425
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4213
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2251
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5010
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29568
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

14-60592583-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60592583
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60592583
    reference: chr 14
allele count: 2
allele frequency: 3.011685339115769e-5
allele num: 66408
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*176+42A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2565+42A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1575+42A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*163+42A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3267+42A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000126773
  ensembl transcript: ENST00000483571
  gene symbol: PCNXL4
  hgvsc: ENST00000483571.1:n.2022A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.888+42A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+42A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3267+42A>G
  variant of: http://identifiers.org/hgnc/20349
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19979
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5684
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5952
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20660
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1007
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-60600350-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600350
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600350
    reference: chr 14
allele count: 16
allele frequency: 1.500375093773443e-3
allele num: 10664
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*164-338A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3268-338A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2566-338A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.889-24A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3268-338A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1576-24A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+7809A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*177-338A>G
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1911
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
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: A
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

14-60600355-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600355
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600355
    reference: chr 14
allele count: 9
allele frequency: 8.426966292134832e-4
allele num: 10680
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.889-19A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+7814A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.1576-19A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3268-333A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*164-333A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*177-333A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2566-333A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3268-333A>G
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2114
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/14-60600416-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600416
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600416
    reference: chr 14
allele count: 1
allele frequency: 9.314456035767511e-5
allele num: 10736
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*34C>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3268-272C>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*164-272C>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*34C>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2566-272C>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*177-272C>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+7875C>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3268-272C>A
  variant of: http://identifiers.org/hgnc/20349
canonical: false
consequence: 3' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 423
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1617
  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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum

14-60600639-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600639
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600639
    reference: chr 14
allele count: 1
allele frequency: 1.67740203972088e-5
allele num: 59616
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*164-49A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*122-49A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3268-49A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3268-49A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*122-49A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8098A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2566-49A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*177-49A>G
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15626
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23046
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4709
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5058
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2348
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4531
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

14-60600659-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600659
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600659
    reference: chr 14
allele count: 5
allele frequency: 7.980591202196259e-5
allele num: 62652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*122-29C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3268-29C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*177-29C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*164-29C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2566-29C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3268-29C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8118C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*122-29C>T
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10702
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3871
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13146
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2544
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24952
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1825
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23162
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

14-60600665-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600665
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600665
    reference: chr 14
allele count: 2
allele frequency: 3.038036213391663e-5
allele num: 65832
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*164-23C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3268-23C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*122-23C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3268-23C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8124C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2566-23C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*122-23C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*177-23C>T
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10914
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24731
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2080
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23769
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2168
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

14-60600672-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600672
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600672
    reference: chr 14
allele count: 1
allele frequency: 1.403902849922785e-5
allele num: 71230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*177-16C>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3268-16C>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2566-16C>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*122-16C>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*164-16C>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3268-16C>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8131C>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*122-16C>G
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3526
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: MQ

14-60600688-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600688
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600688
    reference: chr 14
allele count: 2
allele frequency: 2.334975599504985e-5
allele num: 85654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*122G>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*122G>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8147G>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2566G>C
  hgvsp: ENSP00000317396.4:p.Gly856Arg
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*177G>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3268G>C
  hgvsp: ENSP00000384801.1:p.Gly1090Arg
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3268G>C
  hgvsp: ENSP00000385713.2:p.Gly1090Arg
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*164G>C
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4832
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17093
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2062
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gly856Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum

14-60600691-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600691
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600690
    reference: chr 14
allele count: 1
allele frequency: 1.129764782972185e-5
allele num: 88514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8153delT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3274delT
  hgvsp: ENSP00000384801.1:p.Tyr1092ThrfsTer12
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*128delT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*170delT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2572delT
  hgvsp: ENSP00000317396.4:p.Tyr858ThrfsTer12
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*128delT
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3274delT
  hgvsp: ENSP00000385713.2:p.Tyr1092ThrfsTer12
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*183delT
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4317
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29184
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1843
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15839
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 545
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Tyr858ThrfsTer12
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
reference allele: AT
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

14-60600696-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600696
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600696
    reference: chr 14
allele count: 1
allele frequency: 1.080146899978397e-5
allele num: 92580
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3276C>G
  hgvsp: ENSP00000385713.2:p.Tyr1092Ter
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2574C>G
  hgvsp: ENSP00000317396.4:p.Tyr858Ter
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3276C>G
  hgvsp: ENSP00000384801.1:p.Tyr1092Ter
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*130C>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8155C>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*185C>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*130C>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*172C>G
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1832
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3684
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3276
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1621
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31424
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2121
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr858Ter
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS

14-60600702-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600702
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600702
    reference: chr 14
allele count: 1
allele frequency: 1.023290082272523e-5
allele num: 97724
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*136G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*136G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3282G>A
  hgvsp: ENST00000406854.1:c.3282G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*178G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3282G>A
  hgvsp: ENST00000404681.2:c.3282G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8161G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2580G>A
  hgvsp: ENST00000317623.4:c.2580G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*191G>A
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1339
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 824
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3653
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1145
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly860Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

14-60600704-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600704
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600704
    reference: chr 14
allele count: 2
allele frequency: 2.024537393205653e-5
allele num: 98788
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3284G>A
  hgvsp: ENSP00000385713.2:p.Arg1095Lys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*193G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*180G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3284G>A
  hgvsp: ENSP00000384801.1:p.Arg1095Lys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*138G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8163G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2582G>A
  hgvsp: ENSP00000317396.4:p.Arg861Lys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*138G>A
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1602
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33624
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 805
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1094
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg861Lys
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ

14-60600706-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600706
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600706
    reference: chr 14
allele count: 1
allele frequency: 1.000280078421958e-5
allele num: 99972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8165G>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*182G>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*195G>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3286G>T
  hgvsp: ENSP00000384801.1:p.Val1096Leu
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*140G>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*140G>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3286G>T
  hgvsp: ENSP00000385713.2:p.Val1096Leu
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2584G>T
  hgvsp: ENSP00000317396.4:p.Val862Leu
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2839
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33976
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2174
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Val862Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

14-60600724-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600724
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600724
    reference: chr 14
allele count: 1
allele frequency: 9.07589261403859e-6
allele num: 110182
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8183T>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*158T>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2602T>G
  hgvsp: ENSP00000317396.4:p.Leu868Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*158T>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*200T>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3304T>G
  hgvsp: ENSP00000385713.2:p.Leu1102Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3304T>G
  hgvsp: ENSP00000384801.1:p.Leu1102Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*213T>G
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5489
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4881
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1024
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu868Val
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

14-60600730-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600730
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600730
    reference: chr 14
allele count: 2
allele frequency: 1.781705448455261e-5
allele num: 112252
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2608A>G
  hgvsp: ENSP00000317396.4:p.Ile870Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*206A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3310A>G
  hgvsp: ENSP00000384801.1:p.Ile1104Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8189A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*164A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*164A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3310A>G
  hgvsp: ENSP00000385713.2:p.Ile1104Val
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*219A>G
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3127
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9363
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38522
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4471
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1915
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 841
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ile870Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/14-60600732-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600732
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600732
    reference: chr 14
allele count: 109
allele frequency: 9.653535496669973e-4
allele num: 112912
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2610C>A
  hgvsp: ENST00000317623.4:c.2610C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*166C>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*166C>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3312C>A
  hgvsp: ENST00000404681.2:c.3312C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*221C>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3312C>A
  hgvsp: ENST00000406854.1:c.3312C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8191C>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*208C>A
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4100
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 3.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 38644
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9593
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4332
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile870Ile
num of homozygotes: 1
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

14-60600736-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600736
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600736
    reference: chr 14
allele count: 5
allele frequency: 4.360490467967837e-5
allele num: 114666
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*170G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2614G>A
  hgvsp: ENSP00000317396.4:p.Val872Met
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*212G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*225G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3316G>A
  hgvsp: ENSP00000385713.2:p.Val1106Met
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3316G>A
  hgvsp: ENSP00000384801.1:p.Val1106Met
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8195G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*170G>A
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10087
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1220
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5449
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 415
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val872Met
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD

14-60600740-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600740
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600740
    reference: chr 14
allele count: 1
allele frequency: 8.619055006809053e-6
allele num: 116022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*229G>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*174G>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3320G>C
  hgvsp: ENSP00000385713.2:p.Gly1107Ala
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2618G>C
  hgvsp: ENSP00000317396.4:p.Gly873Ala
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*174G>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8199G>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*216G>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3320G>C
  hgvsp: ENSP00000384801.1:p.Gly1107Ala
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 732
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10499
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39417
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1925
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2799
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly873Ala
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP

14-60600755-AAGCTGTTAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600755
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600746
    reference: chr 14
allele count: 1
allele frequency: 8.380262805041566e-6
allele num: 119328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsp: ENSP00000385713.2:p.Ala1113_Arg1115del
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsp: ENSP00000384801.1:p.Ala1113_Arg1115del
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsp: ENSP00000317396.4:p.Ala879_Arg881del
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40425
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42770
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6051
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2096
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala879_Arg881del
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: AAGCTGTTAG
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum

14-60600767-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600767
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600767
    reference: chr 14
allele count: 3
allele frequency: 2.489254717137689e-5
allele num: 120518
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3347G>A
  hgvsp: ENSP00000384801.1:p.Gly1116Asp
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2645G>A
  hgvsp: ENSP00000317396.4:p.Gly882Asp
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8226G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3347G>A
  hgvsp: ENSP00000385713.2:p.Gly1116Asp
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*243G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*256G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*201G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*201G>A
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40606
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11532
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 906
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4675
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43256
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly882Asp
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP

14-60600771-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600771
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600771
    reference: chr 14
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2649G>T
  hgvsp: ENSP00000317396.4:p.Gln883His
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3351G>T
  hgvsp: ENSP00000385713.2:p.Gln1117His
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3351G>T
  hgvsp: ENSP00000384801.1:p.Gln1117His
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*260G>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*247G>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8230G>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*205G>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*205G>T
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4744
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6244
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln883His
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

14-60600775-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600775
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600774
    reference: chr 14
allele count: 1
allele frequency: 8.276638360563474e-6
allele num: 120822
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*211delC
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3357delC
  hgvsp: ENSP00000384801.1:p.Asn1120IlefsTer26
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*211delC
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*253delC
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3357delC
  hgvsp: ENSP00000385713.2:p.Asn1120IlefsTer26
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*266delC
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2655delC
  hgvsp: ENSP00000317396.4:p.Asn886IlefsTer26
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8236delC
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11675
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4839
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6263
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2410
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asn886IlefsTer26
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: GC
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

14-60600779-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600779
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600779
    reference: chr 14
allele count: 5
allele frequency: 4.134008003439494e-5
allele num: 120948
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8238A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3359A>G
  hgvsp: ENSP00000385713.2:p.Asn1120Ser
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2657A>G
  hgvsp: ENSP00000317396.4:p.Asn886Ser
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3359A>G
  hgvsp: ENSP00000384801.1:p.Asn1120Ser
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*213A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*268A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*255A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*213A>G
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4896
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11685
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40419
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn886Ser
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

14-60600801-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600801
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600801
    reference: chr 14
allele count: 3
allele frequency: 2.475737769855417e-5
allele num: 121176
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*290T>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*235T>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*235T>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2679T>C
  hgvsp: ENST00000317623.4:c.2679T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*277T>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8260T>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3381T>C
  hgvsp: ENST00000404681.2:c.3381T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3381T>C
  hgvsp: ENST00000406854.1:c.3381T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11747
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40364
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Tyr893Tyr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP

14-60600802-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600802
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600802
    reference: chr 14
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8261G>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3382G>T
  hgvsp: ENSP00000385713.2:p.Ala1128Ser
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3382G>T
  hgvsp: ENSP00000384801.1:p.Ala1128Ser
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*278G>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*236G>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2680G>T
  hgvsp: ENSP00000317396.4:p.Ala894Ser
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450994
  ensembl transcript: ENST00000556360
  gene symbol: PCNXL4
  hgvsc: ENST00000556360.1:c.*291G>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*236G>T
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4999
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1902
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala894Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

14-60600805-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600805
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600805
    reference: chr 14
allele count: 1
allele frequency: 8.250688932525866e-6
allele num: 121202
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8264A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*281A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3385A>G
  hgvsp: ENSP00000385713.2:p.Thr1129Ala
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*239A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2683A>G
  hgvsp: ENSP00000317396.4:p.Thr895Ala
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3385A>G
  hgvsp: ENSP00000384801.1:p.Thr1129Ala
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*239A>G
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40355
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5013
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2490
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6315
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 753
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr895Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP

14-60600807-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600807
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600807
    reference: chr 14
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*241A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3387A>G
  hgvsp: ENST00000406854.1:c.3387A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8266A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*283A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3387A>G
  hgvsp: ENST00000404681.2:c.3387A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*241A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2685A>G
  hgvsp: ENST00000317623.4:c.2685A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40352
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43195
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr895Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

14-60600808-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600808
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600808
    reference: chr 14
allele count: 6
allele frequency: 4.950985246063966e-5
allele num: 121188
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3388A>G
  hgvsp: ENSP00000385713.2:p.Asn1130Asp
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2686A>G
  hgvsp: ENSP00000317396.4:p.Asn896Asp
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*284A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*242A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3388A>G
  hgvsp: ENSP00000384801.1:p.Asn1130Asp
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*242A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8267A>G
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5022
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40336
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11743
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2838
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2497
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Asn896Asp
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

14-60600810-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600810
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600810
    reference: chr 14
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8269C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3390C>T
  hgvsp: ENST00000406854.1:c.3390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*244C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3390C>T
  hgvsp: ENST00000404681.2:c.3390C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2688C>T
  hgvsp: ENST00000317623.4:c.2688C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*286C>T
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*244C>T
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40338
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5023
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43187
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6314
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Asn896Asn
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

14-60600811-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600811
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600811
    reference: chr 14
allele count: 8
allele frequency: 6.600768989587287e-5
allele num: 121198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*245G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2689G>A
  hgvsp: ENSP00000317396.4:p.Asp897Asn
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3391G>A
  hgvsp: ENSP00000384801.1:p.Asp1131Asn
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*245G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3391G>A
  hgvsp: ENSP00000385713.2:p.Asp1131Asn
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*287G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8270G>A
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43167
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp897Asn
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: DP

14-60600811-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600811
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600811
    reference: chr 14
allele count: 1
allele frequency: 8.250961236984109e-6
allele num: 121198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3391G>C
  hgvsp: ENSP00000385713.2:p.Asp1131His
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8270G>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3391G>C
  hgvsp: ENSP00000384801.1:p.Asp1131His
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*287G>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2689G>C
  hgvsp: ENSP00000317396.4:p.Asp897His
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*245G>C
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*245G>C
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5029
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2835
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp897His
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS

14-60600813-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600813
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600813
    reference: chr 14
allele count: 2
allele frequency: 1.65000165000165e-5
allele num: 121212
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*289T>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8272T>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3393T>A
  hgvsp: ENSP00000384801.1:p.Asp1131Glu
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3393T>A
  hgvsp: ENSP00000385713.2:p.Asp1131Glu
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*247T>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*247T>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2691T>A
  hgvsp: ENSP00000317396.4:p.Asp897Glu
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5033
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6317
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp897Glu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

14-60600824-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600824
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600824
    reference: chr 14
allele count: 4
allele frequency: 3.300384494793644e-5
allele num: 121198
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*258G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*300G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8283G>A
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3404G>A
  hgvsp: ENSP00000385713.2:p.Arg1135His
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2702G>A
  hgvsp: ENSP00000317396.4:p.Arg901His
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3404G>A
  hgvsp: ENSP00000384801.1:p.Arg1135His
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*258G>A
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11742
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg901His
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

14-60600827-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600827
    reference: chr 14
  end: Position
    type: ExactPosition
    position: 60600827
    reference: chr 14
allele count: 2
allele frequency: 1.650273945474949e-5
allele num: 121192
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385713
  ensembl transcript: ENST00000404681
  gene symbol: PCNXL4
  hgvsc: ENST00000404681.2:c.3407A>G
  hgvsp: ENSP00000385713.2:p.Tyr1136Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000317396
  ensembl transcript: ENST00000317623
  gene symbol: PCNXL4
  hgvsc: ENST00000317623.4:c.2705A>G
  hgvsp: ENSP00000317396.4:p.Tyr902Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000445644
  ensembl transcript: ENST00000535349
  gene symbol: PCNXL4
  hgvsc: ENST00000535349.1:c.*261A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000384801
  ensembl transcript: ENST00000406854
  gene symbol: PCNXL4
  hgvsc: ENST00000406854.1:c.3407A>G
  hgvsp: ENSP00000384801.1:p.Tyr1136Cys
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000385201
  ensembl transcript: ENST00000406949
  gene symbol: PCNXL4
  hgvsc: ENST00000406949.1:c.2565+8286A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000450441
  ensembl transcript: ENST00000555740
  gene symbol: PCNXL4
  hgvsc: ENST00000555740.1:c.*261A>G
  variant of: http://identifiers.org/hgnc/20349
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000126773
  ensembl protein: ENSP00000452234
  ensembl transcript: ENST00000555929
  gene symbol: PCNXL4
  hgvsc: ENST00000555929.1:c.*303A>G
  variant of: http://identifiers.org/hgnc/20349
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40272
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11734
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2516
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6306
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2834
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Tyr902Cys
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

14-60600828-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 60600828
allele count: 4
allele frequency: 3.300656830709311e-5
allele num: 121188
alternate allele: C
canonical: true
consequence: synonymous
filter: PASS
hgvs: p.Tyr902Tyr
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 248
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1585
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3398
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17984
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1328
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2147
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 649
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 882
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1732
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 210
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8948
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.321262766945218e-4
allele num: 4308
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.317e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.72e-2

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.9e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.956e0

FS
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.62e-1

DP
type: SiteQuality
SIO_000300: 4.8884e5

GenotypeQuality
all individuals: 1045
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23202
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 954
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21509
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 807
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 696
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1666
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2620
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1798
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 810
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4890
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.2e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.574e-1

QD
type: SiteQuality
SIO_000300: 9.33e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

DP
type: SiteQuality
SIO_000300: 5.22909e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.56e-1

GenotypeQuality
all individuals: 1703
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21118
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3243
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 830
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21357
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1662
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 239
bin: 7.75e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1816
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.078569943878611e-4
allele num: 9622
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4716
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2632
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 2.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.74e-2

DP
type: SiteQuality
SIO_000300: 5.49113e5

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 3.88e0

VQSLOD
type: SiteQuality
SIO_000300: 6.04e-1

GenotypeQuality
all individuals: 3243
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1017
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1635
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21357
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 654
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 239
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 830
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 9.25e1
variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.078569943878611e-4
allele num: 9622
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 2.120441051738762e-4
allele num: 4716
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1816
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2632
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.49113e5

FS
type: SiteQuality
SIO_000300: 3.88e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.04e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.74e-2

QD
type: SiteQuality
SIO_000300: 2.59e0

GenotypeQuality
all individuals: 156
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 511
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5437
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2086
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1305
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17716
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 270
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1030
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1125
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25129
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1674
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 831
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11738
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 256
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1158
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2976
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1930
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.90088e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -9.576e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.45e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.67e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e0

QD
type: SiteQuality
SIO_000300: 1.364e1

GenotypeQuality
all individuals: 10297
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1412
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 362
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8372
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31306
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 3.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 340
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.79746835443038e-4
allele num: 7900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3798
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1044
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1828
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.8423e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

QD
type: SiteQuality
SIO_000300: 9.65e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.33e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.276e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -3.876e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

GenotypeQuality
all individuals: 287
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32279
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 339
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13234
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1604
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1522
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 342
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1676
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1127
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 299
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 155
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4928
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2068
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.142704092564817e-4
allele num: 9334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3104
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 444
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.32e-1

QD
type: SiteQuality
SIO_000300: 1.137e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.05e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

VQSLOD
type: SiteQuality
SIO_000300: -2.428e-1

FS
type: SiteQuality
SIO_000300: 2.115e0

MQRankSum
type: SiteQuality
SIO_000300: 1.91e0

DP
type: SiteQuality
SIO_000300: 8.13743e5

GenotypeQuality
all individuals: 890
bin: 3.75e1
variant carriers: 6

GenotypeQuality
all individuals: 404
bin: 4.75e1
variant carriers: 3

GenotypeQuality
all individuals: 343
bin: 4.25e1
variant carriers: 7

GenotypeQuality
all individuals: 290
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2951
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 236
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 766
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1582
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 373
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 113
bin: 8.75e1
variant carriers: 5

GenotypeQuality
all individuals: 291
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14787
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2581
bin: 9.75e1
variant carriers: 969

GenotypeQuality
all individuals: 1175
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 9.25e1
variant carriers: 10

European (Non-Finnish)
type: Population
allele count: 184
allele frequency: 7.202693180928521e-3
allele num: 25546
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 1.255230125523013e-2
allele num: 478
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 2.905287623474724e-3
allele num: 3442
num of homozygotes: 0

Latino
type: Population
allele count: 23
allele frequency: 9.259259259259259e-3
allele num: 2484
num of homozygotes: 0

African
type: Population
allele count: 655
allele frequency: 1.094951521230358e-1
allele num: 5982
num of homozygotes: 22

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3454
num of homozygotes: 0

South Asian
type: Population
allele count: 38
allele frequency: 3.905447070914697e-3
allele num: 9730
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.75e-1

MQ
type: SiteQuality
SIO_000300: 5.485e1

FS
type: SiteQuality
SIO_000300: 2.167e0

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.88e-1

DP
type: SiteQuality
SIO_000300: 8.61266e5

MQRankSum
type: SiteQuality
SIO_000300: -1.244e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.5e-1

QD
type: SiteQuality
SIO_000300: 1.823e1

GenotypeQuality
all individuals: 477
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1907
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15690
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2240
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 463
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 366
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 192
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1273
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 310
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6244
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3820
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.570663429265157e-5
allele num: 28006
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.427e0

QD
type: SiteQuality
SIO_000300: 1.095e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.37e-1

DP
type: SiteQuality
SIO_000300: 8.80734e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.699999999999999e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.48e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-3

GenotypeQuality
all individuals: 1698
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 862
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 926
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 28438
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17685
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 313
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1612
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 546
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.509206157561123e-4
allele num: 6626
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3930
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4212
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30724
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.18713e5

MQ
type: SiteQuality
SIO_000300: 5.805e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 4.81e0

MQRankSum
type: SiteQuality
SIO_000300: 4.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.59e-1

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.83e-1

GenotypeQuality
all individuals: 326
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23112
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 661
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1874
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 337
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 392
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24903
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1521
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 587
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 244
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 9.75e1
variant carriers: 14

GenotypeQuality
all individuals: 114
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4938
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 4.240882103477523e-4
allele num: 4716
num of homozygotes: 0

African
type: Population
allele count: 12
allele frequency: 1.646090534979424e-3
allele num: 7290
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.741679004222186e-5
allele num: 36474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11156
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.9e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.96903e5

FS
type: SiteQuality
SIO_000300: 4.71e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

QD
type: SiteQuality
SIO_000300: 1.288e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

GenotypeQuality
all individuals: 216
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1527
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 427
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1864
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 955
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 647
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 157
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 338
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 594
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5018
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37004
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.048340843916428e-4
allele num: 4882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11220
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.985e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.139e0

MQRankSum
type: SiteQuality
SIO_000300: 1.68e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: -1.874e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.25e0

MQ
type: SiteQuality
SIO_000300: 5.395e1

DP
type: SiteQuality
SIO_000300: 1.006015e6

GenotypeQuality
all individuals: 1004
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1644
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1661
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 146
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1353
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 675
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21607
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 690
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 297
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1711
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.713502398903359e-4
allele num: 5836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11738
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.288327750579748e-4
allele num: 7762
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.445944623813717e-5
allele num: 40884
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5478
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

QD
type: SiteQuality
SIO_000300: 1.53e1

MQRankSum
type: SiteQuality
SIO_000300: 4.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.100000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.058932e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

FS
type: SiteQuality
SIO_000300: 3.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 111
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1179
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 704
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1450
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 425
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 957
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1731
bin: 9.75e1
variant carriers: 90

GenotypeQuality
all individuals: 17596
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6178
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 25
allele frequency: 5.45113601674589e-4
allele num: 45862
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8278
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12396
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.479289940828402e-3
allele num: 676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 65
allele frequency: 1.225490196078431e-2
allele num: 5304
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.877e0

VQSLOD
type: SiteQuality
SIO_000300: 3.99e0

QD
type: SiteQuality
SIO_000300: 1.509e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.48e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.13e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

FS
type: SiteQuality
SIO_000300: 5.580000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

DP
type: SiteQuality
SIO_000300: 1.138205e6

GenotypeQuality
all individuals: 296
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 744
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12327
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.5e0
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GenotypeQuality
all individuals: 124
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 841
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1095
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 256
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 738
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2126
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 159
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13330
num of homozygotes: 0

Latino
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: 8822
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.903601614254169e-5
allele num: 52532
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.976e0

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.699999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.233558e6

VQSLOD
type: SiteQuality
SIO_000300: 8.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.069e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.64e-1

GenotypeQuality
all individuals: 513
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40368
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9138
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.288629737609329e-5
allele num: 13720
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7372
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5904
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9026
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 54878
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.424e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.74e0

MQRankSum
type: SiteQuality
SIO_000300: 5.54e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.148e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

DP
type: SiteQuality
SIO_000300: 1.270141e6

FS
type: SiteQuality
SIO_000300: 2.577e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.814e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

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: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 523
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55418
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.682403433476395e-4
allele num: 7456
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: 9266
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.240081088908195e-5
allele num: 13812
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.208480565371025e-4
allele num: 9056
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.338e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.9e-1

FS
type: SiteQuality
SIO_000300: 2.773e0

DP
type: SiteQuality
SIO_000300: 1.280207e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.06e-1

QD
type: SiteQuality
SIO_000300: 1.351e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
all individuals: 301
bin: 4.25e1
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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variant carriers: 4

GenotypeQuality
all individuals: 158
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variant carriers: 0

GenotypeQuality
all individuals: 648
bin: 2.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 5.328218243819267e-5
allele num: 56304
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9448
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9156
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13960
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.320306311064167e-4
allele num: 7574
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.953e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.391e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.293634e6

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

GenotypeQuality
all individuals: 1666
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 117
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variant carriers: 0

GenotypeQuality
all individuals: 44700
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 575
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variant carriers: 0

GenotypeQuality
all individuals: 459
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.678753693258125e-5
allele num: 59568
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7976
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6208
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14522
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9478
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.52e-1

MQ
type: SiteQuality
SIO_000300: 5.917e1

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.43e0

DP
type: SiteQuality
SIO_000300: 1.343505e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.13e1

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 377
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GenotypeQuality
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GenotypeQuality
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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: 20
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GenotypeQuality
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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: 5710
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GenotypeQuality
all individuals: 2574
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8072
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14734
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.301528607745386e-5
allele num: 60578
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6262
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.193e1

MQRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.05e-1

DP
type: SiteQuality
SIO_000300: 1.358752e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-1

GenotypeQuality
all individuals: 185
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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GenotypeQuality
all individuals: 273
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GenotypeQuality
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GenotypeQuality
all individuals: 6
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GenotypeQuality
all individuals: 177
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GenotypeQuality
all individuals: 279
bin: 8.25e1
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GenotypeQuality
all individuals: 49969
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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: 2071
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variant carriers: 427

GenotypeQuality
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GenotypeQuality
all individuals: 86
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GenotypeQuality
all individuals: 112
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variant carriers: 0

Other
type: Population
allele count: 1
allele frequency: 1.15473441108545e-3
allele num: 866
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 331
allele frequency: 5.143105752198639e-3
allele num: 64358
num of homozygotes: 1

Latino
type: Population
allele count: 25
allele frequency: 2.268190890945382e-3
allele num: 11022
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.185114956150747e-4
allele num: 8438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.176652254478073e-4
allele num: 6476
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.00782033286545e-4
allele num: 9974
num of homozygotes: 0

South Asian
type: Population
allele count: 65
allele frequency: 4.158669225847729e-3
allele num: 15630
num of homozygotes: 1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

QD
type: SiteQuality
SIO_000300: 1.323e1

DP
type: SiteQuality
SIO_000300: 1.432357e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 279
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.15473441108545e-3
allele num: 866
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11022
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64358
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15630
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.77e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.323e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.432357e6

VQSLOD
type: SiteQuality
SIO_000300: 6.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.5e-2

GenotypeQuality
all individuals: 102
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GenotypeQuality
all individuals: 25
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 150
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GenotypeQuality
all individuals: 3205
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GenotypeQuality
all individuals: 278
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GenotypeQuality
all individuals: 306
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GenotypeQuality
all individuals: 7
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GenotypeQuality
all individuals: 494
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GenotypeQuality
all individuals: 221
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GenotypeQuality
all individuals: 49949
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GenotypeQuality
all individuals: 1657
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GenotypeQuality
all individuals: 170
bin: 3.75e1
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GenotypeQuality
all individuals: 2848
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GenotypeQuality
all individuals: 116
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6476
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.429214350006429e-5
allele num: 15554
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64212
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10996
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: -3.467e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

DP
type: SiteQuality
SIO_000300: 1.419758e6

FS
type: SiteQuality
SIO_000300: 2.957e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.78e-1

MQ
type: SiteQuality
SIO_000300: 3.748e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

GenotypeQuality
all individuals: 48864
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 466
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 314
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.532532009406845e-5
allele num: 15308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6458
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.568086307470363e-5
allele num: 63772
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.150805270863836e-5
allele num: 10928
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 8.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.75e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.407404e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.385e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.15e-1

GenotypeQuality
all individuals: 4314
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2781
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63666
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.01419878296146e-4
allele num: 9860
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6460
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.327e0

MQ
type: SiteQuality
SIO_000300: 5.493e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.09e0

VQSLOD
type: SiteQuality
SIO_000300: 8.159999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.26e0

DP
type: SiteQuality
SIO_000300: 1.404431e6

QD
type: SiteQuality
SIO_000300: 1.463e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.84e-1

GenotypeQuality
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bin: 8.75e1
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: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10750
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.035625517812759e-4
allele num: 9656
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.068e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.584e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.26e0

DP
type: SiteQuality
SIO_000300: 1.376113e6

VQSLOD
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.13e-1

QD
type: SiteQuality
SIO_000300: 1.668e1

GenotypeQuality
all individuals: 1663
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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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45828
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10716
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14804
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.03777501037775e-4
allele num: 9636
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62482
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

QD
type: SiteQuality
SIO_000300: 1.162e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.485e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

DP
type: SiteQuality
SIO_000300: 1.373175e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

GenotypeQuality
all individuals: 558
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 297
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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
all individuals: 1663
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 369
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14804
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.03777501037775e-4
allele num: 9636
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.33184023889511e-5
allele num: 10716
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.002304663743158e-5
allele num: 62482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.485e0

DP
type: SiteQuality
SIO_000300: 1.373175e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

QD
type: SiteQuality
SIO_000300: 1.162e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.28e-1

GenotypeQuality
all individuals: 2448
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 4.75e1
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GenotypeQuality
all individuals: 38
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 393
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GenotypeQuality
all individuals: 74
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 235
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 146
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GenotypeQuality
all individuals: 805
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9416
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61236
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10508
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.982265046781176e-5
allele num: 14322
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.347e0

VQSLOD
type: SiteQuality
SIO_000300: 5.590000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.013e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.102e0

FS
type: SiteQuality
SIO_000300: 5.18e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.389999999999999e-1

DP
type: SiteQuality
SIO_000300: 1.337156e6

GenotypeQuality
all individuals: 63
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 191
bin: 4.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 525
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.703925845147219e-5
allele num: 58688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10114
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9044
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 772
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6236
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13330
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.94e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.4e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.97e0

QD
type: SiteQuality
SIO_000300: 1.595e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

DP
type: SiteQuality
SIO_000300: 1.260508e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.093e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

GenotypeQuality
all individuals: 15612
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1554
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 7.5e0
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
all individuals: 340
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GenotypeQuality
all individuals: 64
bin: 1.25e1
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GenotypeQuality
all individuals: 107
bin: 8.75e1
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GenotypeQuality
all individuals: 1655
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 220
bin: 8.25e1
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GenotypeQuality
all individuals: 313
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8936
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7678
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6172
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9964
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.729026903658621e-5
allele num: 57836
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13100
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.666e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.44e-1

DP
type: SiteQuality
SIO_000300: 1.232298e6

VQSLOD
type: SiteQuality
SIO_000300: -2.346e0

FS
type: SiteQuality
SIO_000300: 4.599e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.209e0

QD
type: SiteQuality
SIO_000300: 1.593e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 104
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3914
bin: 3.25e1
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GenotypeQuality
all individuals: 614
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GenotypeQuality
all individuals: 1473
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 2.790178571428571e-4
allele num: 10752
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European (Finnish)
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allele frequency: 0.0e0
allele num: 5612
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 666
num of homozygotes: 0

Latino
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allele frequency: 3.516998827667057e-4
allele num: 8530
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.9e-3

ReadPosRankSum
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DP
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MQRankSum
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FS
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QD
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ClippingRankSum
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BaseQRankSum
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VQSLOD
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MQ
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 7396
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 628
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 frequency: 2.170233083033118e-5
allele num: 46078
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 5358
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

BaseQRankSum
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ReadPosRankSum
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MQRankSum
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QD
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DP
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FS
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VQSLOD
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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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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 46218
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 5852
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South Asian
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allele count: 2
allele frequency: 2.083333333333333e-4
allele num: 9600
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5374
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 628
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7920
num of homozygotes: 0

African
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

VQSLOD
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MQ
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SIO_000300: 6.0e1

FS
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InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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DP
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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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East Asian
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allele frequency: 0.0e0
allele num: 5704
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5300
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 7692
num of homozygotes: 0

African
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allele frequency: 1.377031120903333e-4
allele num: 7262
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 44972
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

QD
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BaseQRankSum
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FS
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

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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bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
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allele count: 2
allele frequency: 5.336179295624333e-5
allele num: 37480
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 512
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6774
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.73e-2

DP
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ClippingRankSum
type: SiteQuality
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QD
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FS
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MQ
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VQSLOD
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MQRankSum
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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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variant carriers: 16

GenotypeQuality
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variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: NaN
allele num: 0
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Other
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African
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allele frequency: 0.0e0
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Latino
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East Asian
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European (Non-Finnish)
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South Asian
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ClippingRankSum
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DP
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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QD
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ReadPosRankSum
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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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African
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allele frequency: 3.191489361702127e-2
allele num: 188
num of homozygotes: 0

European (Finnish)
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allele num: 0
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South Asian
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European (Non-Finnish)
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East Asian
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Latino
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Other
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MQ
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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VQSLOD
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ClippingRankSum
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DP
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FS
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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European (Finnish)
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African
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East Asian
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South Asian
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Latino
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Other
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VQSLOD
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InbreedingCoeff
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DP
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MQRankSum
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ReadPosRankSum
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MQ
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BaseQRankSum
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FS
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QD
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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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East Asian
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European (Finnish)
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Latino
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European (Non-Finnish)
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South Asian
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African
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ReadPosRankSum
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FS
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BaseQRankSum
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SIO_000300: 2.79e0

QD
type: SiteQuality
SIO_000300: 9.99e0

VQSLOD
type: SiteQuality
SIO_000300: -5.306e-1

DP
type: SiteQuality
SIO_000300: 7.66327e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.309e0

MQRankSum
type: SiteQuality
SIO_000300: -1.461e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.27e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2081
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 11434
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3782
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4402
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.238083446824316e-4
allele num: 32308
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.613944480309877e-4
allele num: 6196
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11150
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.56e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

DP
type: SiteQuality
SIO_000300: 8.62707e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.200000000000001e-3

VQSLOD
type: SiteQuality
SIO_000300: 5.42e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.33e-1

FS
type: SiteQuality
SIO_000300: 3.979e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.23e-1

MQ
type: SiteQuality
SIO_000300: 5.919e1

GenotypeQuality
all individuals: 574
bin: 1.75e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4474
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4668
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 5.862695667467901e-5
allele num: 34114
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.16647e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -3.739e-1

FS
type: SiteQuality
SIO_000300: 7.912e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.285e0

QD
type: SiteQuality
SIO_000300: 8.369999999999999e0

GenotypeQuality
all individuals: 395
bin: 5.25e1
variant carriers: 0

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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GenotypeQuality
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GenotypeQuality
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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: 556
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.69323996768112e-5
allele num: 37130
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5056
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12132
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4690
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.87478e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.522e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.511e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.304e0

QD
type: SiteQuality
SIO_000300: 1.401e1

FS
type: SiteQuality
SIO_000300: 1.5785e1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

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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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6040
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5476
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.192886276917679e-5
allele num: 45602
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.25250501002004e-4
allele num: 7984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13372
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.13907e6

VQSLOD
type: SiteQuality
SIO_000300: 1.85e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

QD
type: SiteQuality
SIO_000300: 1.66e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.77e-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
all individuals: 212
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6914
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.109793662179839e-5
allele num: 47398
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6220
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5584
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.165884e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.05e0

QD
type: SiteQuality
SIO_000300: 1.154e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.621e0

MQRankSum
type: SiteQuality
SIO_000300: 7.88e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 49800
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5780
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8362
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13952
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.335470085470086e-4
allele num: 7488
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
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Other
type: Population
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allele frequency: 0.0e0
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.41e-1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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BaseQRankSum
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FS
type: SiteQuality
SIO_000300: 0.0e0

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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 8258
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.890430640099815e-5
allele num: 52898
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8656
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
type: Population
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

South Asian
type: Population
allele count: 0
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

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

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

African
type: Population
allele count: 2
allele frequency: 2.28310502283105e-4
allele num: 8760
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

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

ClippingRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
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FS
type: SiteQuality
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ReadPosRankSum
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DP
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InbreedingCoeff
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SIO_000300: 1.0e-4

BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 5.895e1

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.846040243677312e-5
allele num: 54170
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.884e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.045e0

QD
type: SiteQuality
SIO_000300: 1.618e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.89e0

VQSLOD
type: SiteQuality
SIO_000300: -9.113e-1

DP
type: SiteQuality
SIO_000300: 1.276843e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.16e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5713
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 609
bin: 4.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10094
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 832
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.663616702711695e-5
allele num: 60110
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.385626e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.199e0

FS
type: SiteQuality
SIO_000300: 9.396000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.912e1

VQSLOD
type: SiteQuality
SIO_000300: -2.679e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

QD
type: SiteQuality
SIO_000300: 1.749e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.743e0

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1677
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9750
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7874
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.264027156705944e-5
allele num: 61274
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6434
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15672
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

FS
type: SiteQuality
SIO_000300: 7.08e-1

QD
type: SiteQuality
SIO_000300: 1.347e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.411218e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.2e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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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: 2291
bin: 9.75e1
variant carriers: 107

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15732
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.527439024390244e-5
allele num: 10496
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.621639152855706e-5
allele num: 61666
num of homozygotes: 0

African
type: Population
allele count: 107
allele frequency: 1.091391268869849e-2
allele num: 9804
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6448
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7910
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.832e0

FS
type: SiteQuality
SIO_000300: 6.37e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-2

DP
type: SiteQuality
SIO_000300: 1.4242e6

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.32e-1

QD
type: SiteQuality
SIO_000300: 1.359e1

GenotypeQuality
all individuals: 450
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 197
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variant carriers: 0

GenotypeQuality
all individuals: 1823
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.14821810855056e-4
allele num: 15882
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9906
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10740
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62726
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6488
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.31e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.83e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.22e0

QD
type: SiteQuality
SIO_000300: 1.293e1

DP
type: SiteQuality
SIO_000300: 1.443949e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.56e0

VQSLOD
type: SiteQuality
SIO_000300: 3.15e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8194
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16022
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 874
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10894
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.574208173288836e-5
allele num: 63524
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.993e0

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.011e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

MQRankSum
type: SiteQuality
SIO_000300: -4.79e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 1.334e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.59e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

DP
type: SiteQuality
SIO_000300: 1.462133e6

GenotypeQuality
all individuals: 139
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1076
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65492
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11300
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.179801793298726e-4
allele num: 8476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.871e0

MQ
type: SiteQuality
SIO_000300: 5.179e1

QD
type: SiteQuality
SIO_000300: 4.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: 4.25e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.505235e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.88e-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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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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bin: 9.75e1
variant carriers: 3

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: 896
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.822157434402332e-4
allele num: 16464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66192
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.78e0

VQSLOD
type: SiteQuality
SIO_000300: -7.554999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.178e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.31e-1

FS
type: SiteQuality
SIO_000300: 1.026e1

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

MQ
type: SiteQuality
SIO_000300: 5.96e1

DP
type: SiteQuality
SIO_000300: 1.5229e6

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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variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.507886245061673e-5
allele num: 66318
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
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: 898
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.52598e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.069e0

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.497e0

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.733e0

QD
type: SiteQuality
SIO_000300: 1.865e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-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
all individuals: 66
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variant carriers: 0

GenotypeQuality
all individuals: 638
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505978735580254e-5
allele num: 66402
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

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

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

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

DP
type: SiteQuality
SIO_000300: 1.529497e6

VQSLOD
type: SiteQuality
SIO_000300: 1.86e0

MQ
type: SiteQuality
SIO_000300: 5.992e1

MQRankSum
type: SiteQuality
SIO_000300: 1.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.43e-1

FS
type: SiteQuality
SIO_000300: 2.738e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.831e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-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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bin: 9.75e1
variant carriers: 5

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.658103148541626e-5
allele num: 10354
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.819946614899296e-4
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.504121292341014e-5
allele num: 66484
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.64e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.532048e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.82e-1

FS
type: SiteQuality
SIO_000300: 5.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.96e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

MQRankSum
type: SiteQuality
SIO_000300: 2.17e-1

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.474e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 8638
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66622
num of homozygotes: 0

African
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allele count: 3
allele frequency: 2.891844997108155e-4
allele num: 10374
num of homozygotes: 0

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

MQRankSum
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SIO_000300: -1.169e0

FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.607e0

VQSLOD
type: SiteQuality
SIO_000300: 1.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.9e-2

MQ
type: SiteQuality
SIO_000300: 5.977e1

QD
type: SiteQuality
SIO_000300: 1.319e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-2

DP
type: SiteQuality
SIO_000300: 1.536808e6

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50105073551486e-5
allele num: 66620
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

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

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

QD
type: SiteQuality
SIO_000300: 9.460000000000001e0

DP
type: SiteQuality
SIO_000300: 1.536954e6

MQRankSum
type: SiteQuality
SIO_000300: 7.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.399999999999999e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.222e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.71e-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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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.121e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.74e-2

QD
type: SiteQuality
SIO_000300: 1.259e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.229e0

VQSLOD
type: SiteQuality
SIO_000300: -1.049e0

FS
type: SiteQuality
SIO_000300: 9.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 1.537566e6

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 2.142e0

InbreedingCoeff
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SIO_000300: 1.78e-2

ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.166e1

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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bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 9.005223029357028e-5
allele num: 66628
num of homozygotes: 0

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

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

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

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

FS
type: SiteQuality
SIO_000300: 5.118e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-2

DP
type: SiteQuality
SIO_000300: 1.538151e6

BaseQRankSum
type: SiteQuality
SIO_000300: 4.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.74e-2

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 6.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

QD
type: SiteQuality
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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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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500915558490679e-5
allele num: 66626
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6608
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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Latino
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allele count: 0
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num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

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

European (Non-Finnish)
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allele frequency: 1.050546284067715e-4
allele num: 66632
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African
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Latino
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East Asian
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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VQSLOD
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele count: 1
allele frequency: 8.664009703690868e-5
allele num: 11542
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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South Asian
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
type: Population
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Other
type: Population
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ClippingRankSum
type: SiteQuality
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DP
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 7.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.45e-1

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: -3.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.41e0

QD
type: SiteQuality
SIO_000300: 1.221e1

FS
type: SiteQuality
SIO_000300: 5.7e-1

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2272
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 124
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2509
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 754
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2841
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.313208420078649e-4
allele num: 8646
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.89e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.21e-1

DP
type: SiteQuality
SIO_000300: 1.539266e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

QD
type: SiteQuality
SIO_000300: 1.477e1

VQSLOD
type: SiteQuality
SIO_000300: 1.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.88e-2

FS
type: SiteQuality
SIO_000300: 7.947e0

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1911
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 756
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 43150
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2278
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6308
bin: 6.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.026634382566586e-4
allele num: 6608
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.599999999999999e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

QD
type: SiteQuality
SIO_000300: 1.445e1

MQRankSum
type: SiteQuality
SIO_000300: 7.43e-1

DP
type: SiteQuality
SIO_000300: 1.539938e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.19e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.399999999999999e-1

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

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 687
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43131
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2280
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 755
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500870504892838e-5
allele num: 66628
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.062075654704171e-5
allele num: 16496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.84e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

DP
type: SiteQuality
SIO_000300: 1.540115e6

BaseQRankSum
type: SiteQuality
SIO_000300: 5.24e0

MQ
type: SiteQuality
SIO_000300: 6.0e1