X-152938576-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938576
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938576
    reference: chr 0
allele count: 2
allele frequency: 5.245764045533232e-5
allele num: 38126
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-43G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-43G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.50-43G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-43G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-43G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-43G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391772
  ensembl transcript: ENST00000422811
  gene symbol: PNCK
  hgvsc: ENST00000422811.1:c.-45G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-43G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-43G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-43G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-43G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-43G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.71-43G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-43G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-43G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-43G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-43G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-43G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-43G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-2-43G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-2-43G>C
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: 5' UTR
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

X-152938577-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938577
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938577
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 40628
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-44C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-44C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-44C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.71-44C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-44C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391772
  ensembl transcript: ENST00000422811
  gene symbol: PNCK
  hgvsc: ENST00000422811.1:c.-46C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-2-44C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-44C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.50-44C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-44C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-44C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-44C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-44C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-44C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-44C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-44C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-44C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-44C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-2-44C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-44C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-44C>T
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-152938581-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938581
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938581
    reference: chr 0
allele count: 1
allele frequency: 2.387261572250471e-5
allele num: 41889
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-48C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.71-48C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-48C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-48C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.50-48C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-48C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-48C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-2-48C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391772
  ensembl transcript: ENST00000422811
  gene symbol: PNCK
  hgvsc: ENST00000422811.1:c.-50C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-48C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-2-48C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-48C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-48C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-48C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-48C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-48C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-48C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-48C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-48C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-48C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-48C>G
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

X-152938627-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938627
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938627
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 37861
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-94C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-94C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-94C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-94C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.71-94C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-94C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-2-94C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-2-94C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-94C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391772
  ensembl transcript: ENST00000422811
  gene symbol: PNCK
  hgvsc: ENST00000422811.1:c.-96C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-94C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-94C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-94C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-94C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-94C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-94C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-94C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-94C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-94C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.49+50C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-94C>G
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD

X-152938629-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938629
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938629
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 37645
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391772
  ensembl transcript: ENST00000422811
  gene symbol: PNCK
  hgvsc: ENST00000422811.1:c.-98G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-96G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.71-96G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-96G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-96G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-96G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-96G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-96G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-96G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-96G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-96G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-96G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-2-96G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-96G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-96G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-96G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-2-96G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.49+48G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-96G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-96G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-96G>T
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS

X-152938635-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938635
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938635
    reference: chr 0
allele count: 9
allele frequency: 2.467849406345115e-4
allele num: 36469
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-102G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-102G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-2-102G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-2-102G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-102G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-102G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-102G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-102G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-102G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-102G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-102G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-102G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-102G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-102G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-102G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-102G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-102G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-102G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.71-102G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-102G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-102G>A
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

X-152938636-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938636
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938636
    reference: chr 0
allele count: 1
allele frequency: 2.779630865021125e-5
allele num: 35976
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-103C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-103C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.71-103C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-103C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-103C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-103C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-103C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-103C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-103C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-103C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.49+41C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-103C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-103C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-103C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-103C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-103C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-103C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-103C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-103C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-103C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-103C>T
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

X-152938640-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938640
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938640
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 35863
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-107G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-107G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-107G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-107G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-2-107G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-2-107G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-107G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-107G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-107G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-107G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-107G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-107G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.71-107G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-107G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-107G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-107G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-107G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-107G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.49+37G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-107G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-107G>A
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD

X-152938641-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938641
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938641
    reference: chr 0
allele count: 9
allele frequency: 2.49882000166588e-4
allele num: 36017
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-108C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-108C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-108C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-108C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-108C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-108C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.49+36C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-108C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-108C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-108C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-108C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-108C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-108C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-108C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-108C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.71-108C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-108C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-108C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-108C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-2-108C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-108C>T
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum

X-152938642-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938642
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938642
    reference: chr 0
allele count: 1
allele frequency: 2.77284826974268e-5
allele num: 36064
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-109G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-109G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-109G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-109G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-109G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-109G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-109G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-109G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-109G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-109G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-109G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.49+35G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-109G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-109G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-109G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-109G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-109G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-109G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-109G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-109G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-2-109G>C
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ

X-152938645-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938645
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938645
    reference: chr 0
allele count: 1
allele frequency: 2.775773052795203e-5
allele num: 36026
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-112A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-112A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-112A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-112A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-112A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-112A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-112A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.49+32A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-112A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-112A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.71-112A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-112A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-112A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-112A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-112A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-112A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-3+110A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-2-112A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-112A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-112A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-112A>G
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: BaseQRankSum

X-152938646-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938646
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938646
    reference: chr 0
allele count: 2
allele frequency: 5.592684768323034e-5
allele num: 35761
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-113G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-2-113G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-113G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-113G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-113G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-113G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-113G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-113G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-113G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-113G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-113G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-113G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-113G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-113G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.71-113G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-113G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-3+109G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-113G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-113G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-113G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.49+31G>A
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

X-152938647-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938647
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938647
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 35855
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-114C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-114C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-2-114C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-114C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-114C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-114C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-114C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-114C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-114C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-114C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.49+30C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-114C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-114C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.71-114C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-114C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-114C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-114C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-3+108C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-114C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-114C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-114C>G
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

X-152938657-T-TC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938657
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938658
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 36668
alternate allele: TC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-125dupG
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-125dupG
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-125dupG
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-125dupG
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-125dupG
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-3+97dupG
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-125dupG
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.70+109dupG
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-125dupG
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-125dupG
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-125dupG
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-125dupG
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-125dupG
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-125dupG
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-125dupG
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-125dupG
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.49+19dupG
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-125dupG
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-125dupG
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-125dupG
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-125dupG
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: DP

X-152938667-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938667
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938667
    reference: chr 0
allele count: 1
allele frequency: 2.489296027083541e-5
allele num: 40172
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-134T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-134T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-134T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-134T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-134T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-134T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-134T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.49+10T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-3+100T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.70+100T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-134T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-134T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-134T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-3+88T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-134T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-134T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-134T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-134T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-134T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-134T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-134T>C
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

X-152938679-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938679
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938679
    reference: chr 0
allele count: 2
allele frequency: 4.54277018125653e-5
allele num: 44026
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-146G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-146G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-146G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-146G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-146G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.47G>T
  hgvsp: ENSP00000359164.4:p.Gly16Val
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-146G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-146G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-146G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-146G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-146G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-146G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-146G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-146G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-3+76G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-146G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-146G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.70+88G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-146G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-146G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-146G>T
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly16Val
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

X-152938679-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938679
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938679
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 44026
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-146G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-146G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-146G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-146G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-146G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-146G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-146G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-3+76G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-146G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.47G>C
  hgvsp: ENSP00000359164.4:p.Gly16Ala
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-146G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-146G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-146G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-146G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-146G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-146G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-3+88G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-146G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-146G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-146G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-146G>C
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: missense
filter: AC_Adj0
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly16Ala
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP

X-152938684-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938684
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938684
    reference: chr 0
allele count: 2
allele frequency: 4.430463869567144e-5
allele num: 45142
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-151G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-151G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-3+71G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.70+83G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-151G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-151G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-151G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-151G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-151G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-151G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-151G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-3+83G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-151G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-151G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-151G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-151G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-151G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.42G>C
  hgvsp: ENST00000370145.4:c.42G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-151G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-151G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-151G>C
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro14Pro
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

X-152938688-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938688
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938688
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 46213
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-155G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.38G>A
  hgvsp: ENSP00000359164.4:p.Arg13His
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.70+79G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-155G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-3+79G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-155G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-155G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-155G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-3+67G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-155G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-155G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-155G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-155G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-155G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-155G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-155G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-155G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-155G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-155G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-155G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-155G>A
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg13His
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP

X-152938692-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938692
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938692
    reference: chr 0
allele count: 1
allele frequency: 2.120890774125132e-5
allele num: 47150
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-159A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-159A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-159A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-159A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.70+75A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-159A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-159A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-159A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-159A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.34A>G
  hgvsp: ENSP00000359164.4:p.Arg12Gly
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-159A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-3+63A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-159A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-159A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-159A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-159A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-159A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-3+75A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-159A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-159A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-159A>G
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg12Gly
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

X-152938695-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938695
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938695
    reference: chr 0
allele count: 1
allele frequency: 2.095162270317836e-5
allele num: 47729
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.31G>T
  hgvsp: ENSP00000359164.4:p.Gly11Trp
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-162G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-162G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-162G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-162G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-162G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-162G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-162G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-162G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-162G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-162G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-3+72G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.70+72G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-162G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-162G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-162G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-162G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-162G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-162G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-162G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-162G>T
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly11Trp
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

X-152938698-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938698
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938698
    reference: chr 0
allele count: 4
allele frequency: 8.325181593023498e-5
allele num: 48047
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-165G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-165G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-165G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-165G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-165G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.70+69G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-165G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-165G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-165G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-165G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-165G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-165G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-3+57G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-165G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-3+69G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-165G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.28G>A
  hgvsp: ENSP00000359164.4:p.Ala10Thr
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-165G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-165G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-165G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-165G>A
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala10Thr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP

X-152938708-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938708
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938708
    reference: chr 0
allele count: 5
allele frequency: 1.020803985218758e-4
allele num: 48981
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-175C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-175C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.18C>T
  hgvsp: ENST00000370145.4:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-175C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-175C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-3+59C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-175C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-175C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-175C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.70+59C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-175C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-175C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-175C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-175C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-175C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-175C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-175C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-175C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-175C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-175C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-175C>T
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys6Cys
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

X-152938713-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938713
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938713
    reference: chr 0
allele count: 1
allele frequency: 2.038403522361287e-5
allele num: 49058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-180G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-180G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-180G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-180G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-180G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.13G>C
  hgvsp: ENSP00000359164.4:p.Val5Leu
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-180G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-180G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-180G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-180G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-180G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-180G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-180G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-3+42G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-180G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-180G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-180G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-180G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.70+54G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-180G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-3+54G>C
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Val5Leu
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-152938718-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938718
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938718
    reference: chr 0
allele count: 15
allele frequency: 3.039390500891555e-4
allele num: 49352
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-185G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-185G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-185G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-185G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-185G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-185G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.70+49G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-185G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.8G>A
  hgvsp: ENSP00000359164.4:p.Arg3Lys
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-185G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-185G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-3+37G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-185G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-185G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-185G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-185G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-185G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-185G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-185G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-185G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-185G>A
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg3Lys
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

X-152938726-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938726
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938726
    reference: chr 0
allele count: 2
allele frequency: 4.108801051853069e-5
allele num: 48676
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-193G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-193G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-3+41G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-193G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-193G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-193G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-193G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.70+41G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-193G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-193G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-193G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-193G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.-1G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-193G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-193G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-193G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-193G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-193G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-3+29G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-193G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-193G>A
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

X-152938731-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938731
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938731
    reference: chr 0
allele count: 1
allele frequency: 2.121520706042091e-5
allele num: 47136
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359164
  ensembl transcript: ENST00000370145
  gene symbol: PNCK
  hgvsc: ENST00000370145.4:c.-6C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-198C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-198C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-3+24C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-198C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-198C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-198C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-198C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-198C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-198C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-198C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-198C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-198C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.70+36C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-198C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-198C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-198C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-198C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-198C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-198C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-198C>G
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

X-152938750-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938750
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938750
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 42364
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-217G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.70+17G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-217G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-217G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-217G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-217G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-217G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-217G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-217G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-217G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-217G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-217G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-217G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-217G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-217G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-217G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-3+5G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-217G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-217G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-217G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-3+17G>C
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: splice region
filter: AC_Adj0
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.-3+5G>C
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: MQRankSum

X-152938750-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938750
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938750
    reference: chr 0
allele count: 1
allele frequency: 2.360494759701633e-5
allele num: 42364
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-217G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.70+17G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-217G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-217G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-217G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-217G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-217G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-217G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-217G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-217G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-217G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-217G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-217G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-217G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-217G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-3+5G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-217G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-217G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-217G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-217G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-3+17G>A
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.-3+5G>A
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD

X-152938751-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938751
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938751
    reference: chr 0
allele count: 1
allele frequency: 2.375071252137564e-5
allele num: 42104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-218C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-218C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-218C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-218C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-218C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-218C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.70+16C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.234-218C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-218C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-3+16C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-2-218C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-3+4C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-218C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-218C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-218C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-218C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-218C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-218C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-218C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-218C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-218C>T
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.-3+4C>T
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD

X-152938761-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938761
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938761
    reference: chr 0
allele count: 1
allele frequency: 2.667022269635952e-5
allele num: 37495
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-3+6G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-228G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-228G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-228G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.70+6G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-228G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-228G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-228G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-228G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-228G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-9G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-228G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-228G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-228G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-228G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.233+211G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-228G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-3+211G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-228G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-228G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-228G>C
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.-3+6G>C
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: InbreedingCoeff

X-152938762-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938762
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938762
    reference: chr 0
allele count: 4
allele frequency: 1.082046149268266e-4
allele num: 36967
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-229G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.70+5G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-229G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-229G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-10G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-229G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-229G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-229G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-229G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-229G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-229G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-3+5G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-229G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-229G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-229G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-229G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-229G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-229G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359169
  ensembl transcript: ENST00000370150
  gene symbol: PNCK
  hgvsc: ENST00000370150.1:c.-3+210G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-229G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-229G>C
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.-3+5G>C
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

X-152938764-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938764
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938764
    reference: chr 0
allele count: 4
allele frequency: 1.101624896722666e-4
allele num: 36310
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-12G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-231G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-231G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-231G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.70+3G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-231G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-231G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-231G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-231G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-3+3G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-231G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-231G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-231G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-231G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-231G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-231G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-231G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-231G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.233+208G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-231G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-231G>A
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.-3+3G>A
num of homozygotes: 1
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

X-152938769-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938769
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938769
    reference: chr 0
allele count: 1
allele frequency: 2.919367081216792e-5
allele num: 34254
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.233+203G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-236G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-236G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-236G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-236G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-236G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-236G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-236G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-236G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-17G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-236G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-236G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-236G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.68G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-5G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-236G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-236G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-236G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-236G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-236G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-236G>C
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.-5G>C
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

X-152938769-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938769
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938769
    reference: chr 0
allele count: 1
allele frequency: 2.919367081216792e-5
allele num: 34254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-236G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-236G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-5G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-236G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.68G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-236G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-236G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-236G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000465303
  gene symbol: PNCK
  hgvsc: ENST00000465303.1:n.26-236G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-236G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-236G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-236G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-236G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-17G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-236G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-236G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-236G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-236G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-236G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-236G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-236G>A
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.-5G>A
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum

X-152938773-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152938773
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152938773
    reference: chr 0
allele count: 1
allele frequency: 3.003814844852963e-5
allele num: 33291
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-2-240C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000415770
  ensembl transcript: ENST00000439087
  gene symbol: PNCK
  hgvsc: ENST00000439087.1:c.-21C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000463548
  gene symbol: PNCK
  hgvsc: ENST00000463548.1:n.64C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-2-240C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000340586
  ensembl transcript: ENST00000340888
  gene symbol: PNCK
  hgvsc: ENST00000340888.3:c.-2-240C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466638
  gene symbol: PNCK
  hgvsc: ENST00000466638.1:n.44-240C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.573-240C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000472324
  gene symbol: PNCK
  hgvsc: ENST00000472324.1:n.24-240C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000397085
  ensembl transcript: ENST00000433470
  gene symbol: PNCK
  hgvsc: ENST00000433470.1:c.-2-240C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-240C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000396128
  ensembl transcript: ENST00000434652
  gene symbol: PNCK
  hgvsc: ENST00000434652.1:c.-9C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000391264
  ensembl transcript: ENST00000411968
  gene symbol: PNCK
  hgvsc: ENST00000411968.1:c.-2-240C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-240C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.73-240C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-240C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000466074
  gene symbol: PNCK
  hgvsc: ENST00000466074.1:n.19-240C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000475172
  gene symbol: PNCK
  hgvsc: ENST00000475172.1:n.233+199C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-240C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.248-240C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000489536
  gene symbol: PNCK
  hgvsc: ENST00000489536.1:n.56-240C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-2-240C>G
  variant of: http://identifiers.org/hgnc/13415
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

X-152939414-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939414
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939414
    reference: chr 0
allele count: 35
allele frequency: 4.40251572327044e-2
allele num: 795
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-881C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.217C>T
  hgvsp: ENSP00000405950.2:p.Pro73Ser
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-881C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+315C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-881C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-33C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-881C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+315C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.542C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-881C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+673C>T
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10975
  bin: 2.5e0
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 7.5e0
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 6.75e1
  variant carriers: 2
hgvs: p.Pro73Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

X-152939419-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939419
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939419
    reference: chr 0
allele count: 3
allele frequency: 2.568493150684931e-3
allele num: 1168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-886G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+310G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.537G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+668G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-886G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-38G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.212G>A
  hgvsp: ENSP00000405950.2:p.Arg71Gln
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-886G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-886G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+310G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-886G>A
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 7.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 13409
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  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: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 1
hgvs: p.Arg71Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum

X-152939447-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939447
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939447
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 6487
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.184G>T
  hgvsp: ENSP00000405950.2:p.Ala62Ser
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+282G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+282G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-66G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-914G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-914G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-914G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.509G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+640G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-914G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-914G>T
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9654
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32191
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3507
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  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 quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ala62Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

X-152939461-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939461
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939461
    reference: chr 0
allele count: 0
allele frequency: 0.0e0
allele num: 9205
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-928G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+626G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+268G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-928G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-928G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.495G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+268G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-928G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.170G>C
  hgvsp: ENSP00000405950.2:p.Arg57Pro
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-928G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-80G>C
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  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: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27832
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19267
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 626
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Arg57Pro
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

X-152939474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939474
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939474
    reference: chr 0
allele count: 42
allele frequency: 2.967359050445104e-3
allele num: 14154
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-93G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-941G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+255G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+255G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-941G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-941G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-941G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.157G>A
  hgvsp: ENSP00000405950.2:p.Gly53Arg
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+613G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-941G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.482G>A
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5767
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1016
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2107
  bin: 1.25e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26139
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20735
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 1.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 9.75e1
  variant carriers: 33
hgvs: p.Gly53Arg
num of homozygotes: 1
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP

X-152939475-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939475
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939475
    reference: chr 0
allele count: 3
allele frequency: 1.989785766399151e-4
allele num: 15077
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+254C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-94C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.156C>T
  hgvsp: ENST00000447676.2:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-942C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+254C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.481C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+612C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-942C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-942C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-942C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-942C>T
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26805
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2197
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19932
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 495
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala52Ala
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: G
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

X-152939483-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939483
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939483
    reference: chr 0
allele count: 261
allele frequency: 1.259530933307596e-2
allele num: 20722
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-102G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.473G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-950G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-950G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-950G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-950G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+246G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.148G>C
  hgvsp: ENSP00000405950.2:p.Gly50Arg
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-950G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+246G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+604G>C
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7911
  bin: 2.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 2.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 15928
  bin: 2.5e0
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 28805
  bin: 7.5e0
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 1.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 1.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 7
hgvs: p.Gly50Arg
num of homozygotes: 2
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

X-152939507-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939507
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939507
    reference: chr 0
allele count: 1
allele frequency: 2.623707823896731e-5
allele num: 38114
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+222C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-974C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.124C>T
  hgvsp: ENSP00000405950.2:p.Arg42Trp
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-126C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-974C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-974C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+222C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-974C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-974C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.449C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+580C>T
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4264
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  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: 1316
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28779
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7351
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg42Trp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

X-152939514-GTCTCCCGGAGAGCTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939514
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939499
    reference: chr 0
allele count: 3
allele frequency: 6.997084548104956e-5
allele num: 42875
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27629
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5689
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 643
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4568
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17062
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1680
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys34_Asp39delinsAsn
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: GTCTCCCGGAGAGCTC
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

X-152939515-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939515
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939515
    reference: chr 0
allele count: 1
allele frequency: 2.299009127066235e-5
allele num: 43497
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-134A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-982A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+572A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+214A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-982A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-982A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-982A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.116A>G
  hgvsp: ENSP00000405950.2:p.Asp39Gly
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.441A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-982A>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+214A>G
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27455
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17327
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4610
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2802
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5528
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5377
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Asp39Gly
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP

X-152939520-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939520
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939520
    reference: chr 0
allele count: 3
allele frequency: 6.394815935881312e-5
allele num: 46913
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-987G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.111G>T
  hgvsp: ENST00000447676.2:c.111G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+209G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-139G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+567G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-987G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+209G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-987G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-987G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.436G>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-987G>T
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4656
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 26078
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19136
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro37Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQ
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

X-152939522-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939522
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939522
    reference: chr 0
allele count: 2
allele frequency: 4.052192235999676e-5
allele num: 49356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+565C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.109C>G
  hgvsp: ENSP00000405950.2:p.Pro37Ala
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-989C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-989C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-141C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-989C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.434C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-989C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+207C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-989C>G
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+207C>G
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4665
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20207
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3416
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro37Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ

X-152939526-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939526
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939526
    reference: chr 0
allele count: 1
allele frequency: 1.922522349322311e-5
allele num: 52015
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-993C>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.105C>A
  hgvsp: ENSP00000405950.2:p.Ser35Arg
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-993C>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.430C>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-145C>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-993C>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+203C>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-993C>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+561C>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+203C>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-993C>A
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  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: 3332
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21583
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4688
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  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: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ser35Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum

X-152939532-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939532
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939532
    reference: chr 0
allele count: 11
allele frequency: 1.966603496978582e-4
allele num: 55934
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+555G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.424G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-151G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-999G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-999G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+197G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-999G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.99G>A
  hgvsp: ENST00000447676.2:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+197G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-999G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-999G>A
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4257
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23986
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2637
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4544
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1166
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21823
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1753
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro33Pro
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS

X-152939536-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939536
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939536
    reference: chr 0
allele count: 2
allele frequency: 3.323805092069401e-5
allele num: 60172
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.420G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-1003G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-1003G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-1003G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.95G>C
  hgvsp: ENSP00000405950.2:p.Trp32Ser
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-155G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-1003G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+193G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+551G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-1003G>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+193G>C
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19434
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26483
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1420
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.75e1
  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: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 972
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Trp32Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

X-152939537-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939537
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939537
    reference: chr 0
allele count: 5
allele frequency: 8.218682709535316e-5
allele num: 60837
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-1004T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.94T>C
  hgvsp: ENSP00000405950.2:p.Trp32Arg
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+192T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+192T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-1004T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.419T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+550T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-1004T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-1004T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-156T>C
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-1004T>C
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26974
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4165
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18991
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Trp32Arg
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP

X-152939551-CTCTCTGCCTTCCAG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939551
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939537
    reference: chr 0
allele count: 1
allele frequency: 1.426350397238586e-5
allele num: 70109
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsp: ENSP00000405950.2:p.Asp22GlufsTer124
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1389
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32838
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12248
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6642
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1507
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asp22GlufsTer124
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: CTCTCTGCCTTCCAG
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP

X-152939558-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939558
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939558
    reference: chr 0
allele count: 1
allele frequency: 1.363512407962913e-5
allele num: 73340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-1025G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-1025G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-1025G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-1025G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+171G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+171G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-1025G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.73G>A
  hgvsp: ENSP00000405950.2:p.Ala25Thr
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-177G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.398G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+529G>A
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9728
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35356
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7396
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala25Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

X-152939559-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939559
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939559
    reference: chr 0
allele count: 1
allele frequency: 1.356465593250227e-5
allele num: 73721
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.72G>A
  hgvsp: ENST00000447676.2:c.72G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+170G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+528G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-1026G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-1026G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-178G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+170G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-1026G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-1026G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.397G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-1026G>A
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7492
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2617
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9435
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys24Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

X-152939579-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939579
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939579
    reference: chr 0
allele count: 4
allele frequency: 5.064765691277207e-5
allele num: 78977
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-1046G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.377G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.52G>A
  hgvsp: ENSP00000405950.2:p.Gly18Ser
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+508G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-1046G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-1046G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-1046G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-1046G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+150G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-198G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+150G>A
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3374
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1807
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9152
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38759
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly18Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

X-152939587-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939587
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939587
    reference: chr 0
allele count: 3
allele frequency: 3.759351386574103e-5
allele num: 79801
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-1054G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+500G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.369G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+142G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-206G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+142G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-1054G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-1054G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-1054G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.44G>A
  hgvsp: ENSP00000405950.2:p.Arg15Gln
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-1054G>A
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4191
  bin: 7.5e0
  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: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38710
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 937
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9571
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg15Gln
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

X-152939591-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939591
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939591
    reference: chr 0
allele count: 1
allele frequency: 1.248236865427583e-5
allele num: 80113
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+138C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-1058C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-1058C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+138C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-210C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.40C>T
  hgvsp: ENSP00000405950.2:p.Pro14Ser
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.365C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-1058C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-1058C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+496C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-1058C>T
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1930
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3657
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 958
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38597
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro14Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD

X-152939593-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939593
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939593
    reference: chr 0
allele count: 5
allele frequency: 6.243912185619022e-5
allele num: 80078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+136G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-1060G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-1060G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.38G>A
  hgvsp: ENSP00000405950.2:p.Cys13Tyr
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+494G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-1060G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+136G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.363G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-212G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-1060G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-1060G>A
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38458
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2017
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Cys13Tyr
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum

X-152939603-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939603
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939603
    reference: chr 0
allele count: 1
allele frequency: 1.245562682942019e-5
allele num: 80285
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-1070G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+484G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-222G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-1070G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.28G>A
  hgvsp: ENSP00000405950.2:p.Gly10Arg
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.353G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+126G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-1070G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-1070G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+126G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-1070G>A
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2305
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10029
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3847
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38707
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly10Arg
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum

X-152939604-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939604
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939604
    reference: chr 0
allele count: 1
allele frequency: 1.244477630514592e-5
allele num: 80355
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+125C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-1071C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000411267
  ensembl transcript: ENST00000418241
  gene symbol: PNCK
  hgvsc: ENST00000418241.1:c.-3+483C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000377417
  ensembl transcript: ENST00000393831
  gene symbol: PNCK
  hgvsc: ENST00000393831.2:c.-223C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.352C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000405950
  ensembl transcript: ENST00000447676
  gene symbol: PNCK
  hgvsc: ENST00000447676.2:c.27C>T
  hgvsp: ENST00000447676.2:c.27C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000359161
  ensembl transcript: ENST00000370142
  gene symbol: PNCK
  hgvsc: ENST00000370142.1:c.-3+125C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488994
  gene symbol: PNCK
  hgvsc: ENST00000488994.1:n.289-1071C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-1071C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-1071C>T
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000407173
  ensembl transcript: ENST00000425526
  gene symbol: PNCK
  hgvsc: ENST00000425526.1:c.-2-1071C>T
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10086
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3744
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37828
  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: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala9Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: FS

X-152939615-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 24152939615
    reference: chr 0
  end: Position
    type: ExactPosition
    position: 24152939615
    reference: chr 0
allele count: 1
allele frequency: 1.245919613266552e-5
allele num: 80262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000401542
  ensembl transcript: ENST00000458354
  gene symbol: PNCK
  hgvsc: ENST00000458354.1:c.-2-1082G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000400671
  ensembl transcript: ENST00000419804
  gene symbol: PNCK
  hgvsc: ENST00000419804.1:c.-2-1082G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000462280
  gene symbol: PNCK
  hgvsc: ENST00000462280.1:n.341G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl protein: ENSP00000395360
  ensembl transcript: ENST00000423545
  gene symbol: PNCK
  hgvsc: ENST00000423545.1:c.-2-1082G>A
  variant of: http://identifiers.org/hgnc/13415
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000130822
  ensembl transcript: ENST00000488168
  gene symbol: PNCK
  hgvsc: ENST00000488168.1:n.72+114G>A
  variant of: http://identifiers.org/hgnc/13415
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
hgvs: p.Gly6Arg
num of homozygotes: 0
reference allele: C

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000401542
ensembl transcript: ENST00000458354
gene symbol: PNCK
hgvsc: ENST00000458354.1:c.-2-43G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000466638
gene symbol: PNCK
hgvsc: ENST00000466638.1:n.44-43G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000377417
ensembl transcript: ENST00000393831
gene symbol: PNCK
hgvsc: ENST00000393831.2:c.-2-43G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000340586
ensembl transcript: ENST00000340888
gene symbol: PNCK
hgvsc: ENST00000340888.3:c.-2-43G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000395360
ensembl transcript: ENST00000423545
gene symbol: PNCK
hgvsc: ENST00000423545.1:c.-2-43G>C
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 23
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 647
bin: 3.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 13029
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 22772
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1367
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4796
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 153
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13822
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1851
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 363
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1740
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1984
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1893
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4697
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4420
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 217
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 476
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15587
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18706
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3557
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 590
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 100
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3651
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3439
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4073
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3745
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 257
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 4.330879168471199e-4
allele num: 4618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20868
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1126
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.381e0

VQSLOD
type: SiteQuality
SIO_000300: -3.239e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

DP
type: SiteQuality
SIO_000300: 5.88352e5

QD
type: SiteQuality
SIO_000300: 2.89e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.28e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000462280
gene symbol: PNCK
hgvsc: ENST00000462280.1:n.573-44C>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000340586
ensembl transcript: ENST00000340888
gene symbol: PNCK
hgvsc: ENST00000340888.3:c.-2-44C>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000391264
ensembl transcript: ENST00000411968
gene symbol: PNCK
hgvsc: ENST00000411968.1:c.-2-44C>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000401542
ensembl transcript: ENST00000458354
gene symbol: PNCK
hgvsc: ENST00000458354.1:c.-2-44C>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000359161
ensembl transcript: ENST00000370142
gene symbol: PNCK
hgvsc: ENST00000370142.1:c.-2-44C>T
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 40
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4297
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12913
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 80
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 696
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2268
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22656
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 13975
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 152
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1779
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 367
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 834
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 419
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3727
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2989
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14512
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2327
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 167
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3421
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22841
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3875
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1246
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 288
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 352
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4057
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22393
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4826
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1213
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4227
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 264
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.09e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-1

DP
type: SiteQuality
SIO_000300: 6.1289e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e0

VQSLOD
type: SiteQuality
SIO_000300: -1.108e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.61e-1

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000405950
ensembl transcript: ENST00000447676
gene symbol: PNCK
hgvsc: ENST00000447676.2:c.248-48C>G
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000401542
ensembl transcript: ENST00000458354
gene symbol: PNCK
hgvsc: ENST00000458354.1:c.-2-48C>G
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000397085
ensembl transcript: ENST00000433470
gene symbol: PNCK
hgvsc: ENST00000433470.1:c.-2-48C>G
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000400671
ensembl transcript: ENST00000419804
gene symbol: PNCK
hgvsc: ENST00000419804.1:c.-2-48C>G
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000377417
ensembl transcript: ENST00000393831
gene symbol: PNCK
hgvsc: ENST00000393831.2:c.-2-48C>G
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 3081
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11926
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 153
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 376
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13916
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 81
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3878
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2099
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23179
bin: 7.5e0
variant carriers: 2

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

GenotypeDepth
all individuals: 40
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 90
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 743
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 59
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3691
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3809
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3694
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 450
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 342
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1651
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 347
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2891
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12997
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 426
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 23655
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 990
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2842
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4206
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5035
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1295
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3723
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.345181194055792e-5
allele num: 23014
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4340
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.72e-1

DP
type: SiteQuality
SIO_000300: 6.37036e5

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.298e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

FS
type: SiteQuality
SIO_000300: 5.756e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.58e-2

QD
type: SiteQuality
SIO_000300: 1.783e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000411267
ensembl transcript: ENST00000418241
gene symbol: PNCK
hgvsc: ENST00000418241.1:c.-2-94C>G
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000475172
gene symbol: PNCK
hgvsc: ENST00000475172.1:n.234-94C>G
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000466638
gene symbol: PNCK
hgvsc: ENST00000466638.1:n.44-94C>G
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000397085
ensembl transcript: ENST00000433470
gene symbol: PNCK
hgvsc: ENST00000433470.1:c.-2-94C>G
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000488168
gene symbol: PNCK
hgvsc: ENST00000488168.1:n.73-94C>G
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1040
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 283
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4372
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14652
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12722
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22455
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 557
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1815
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4180
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3508
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2385
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 152
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12706
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6274
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1886
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 918
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4577
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 524
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16984
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1792
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 794
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3951
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3078
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4404
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4196
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 942
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21052
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.47227e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.87e-2

MQ
type: SiteQuality
SIO_000300: 5.303e1

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-2

QD
type: SiteQuality
SIO_000300: 3.233e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000397085
ensembl transcript: ENST00000433470
gene symbol: PNCK
hgvsc: ENST00000433470.1:c.-2-96G>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000400671
ensembl transcript: ENST00000419804
gene symbol: PNCK
hgvsc: ENST00000419804.1:c.-2-96G>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000391264
ensembl transcript: ENST00000411968
gene symbol: PNCK
hgvsc: ENST00000411968.1:c.-2-96G>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000340586
ensembl transcript: ENST00000340888
gene symbol: PNCK
hgvsc: ENST00000340888.3:c.-2-96G>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000407173
ensembl transcript: ENST00000425526
gene symbol: PNCK
hgvsc: ENST00000425526.1:c.-2-96G>T
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 226
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4314
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 281
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1022
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1803
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 550
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14743
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 22520
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 12629
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5485
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4159
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17680
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2358
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12934
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4695
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1749
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3499
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20940
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4155
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 925
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3064
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4377
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3943
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 241
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.783e1

DP
type: SiteQuality
SIO_000300: 6.45141e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.69e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.263e-1

MQ
type: SiteQuality
SIO_000300: 5.872e1

FS
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000377417
ensembl transcript: ENST00000393831
gene symbol: PNCK
hgvsc: ENST00000393831.2:c.-2-102G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000488168
gene symbol: PNCK
hgvsc: ENST00000488168.1:n.73-102G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000395360
ensembl transcript: ENST00000423545
gene symbol: PNCK
hgvsc: ENST00000423545.1:c.-2-102G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000359164
ensembl transcript: ENST00000370145
gene symbol: PNCK
hgvsc: ENST00000370145.4:c.49+42G>A
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4265
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15008
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1824
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 540
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22775
bin: 7.5e0
variant carriers: 4

GenotypeDepth
all individuals: 936
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12111
bin: 1.25e1
variant carriers: 5

GenotypeDepth
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 278
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4094
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13312
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17345
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4919
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2346
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1841
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 462
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 189
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3429
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5366
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1779
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 891
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 9.75e1
variant carriers: 9

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 855
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4265
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3843
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2930
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3977
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 4.420866489832007e-4
allele num: 20358
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 241
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.38659e5

ClippingRankSum
type: SiteQuality
SIO_000300: 2.12e-1

QD
type: SiteQuality
SIO_000300: 1.518e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

FS
type: SiteQuality
SIO_000300: 8.868e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.82e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.54e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.5e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000415770
ensembl transcript: ENST00000439087
gene symbol: PNCK
hgvsc: ENST00000439087.1:c.-2-103C>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000475172
gene symbol: PNCK
hgvsc: ENST00000475172.1:n.234-103C>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000396128
ensembl transcript: ENST00000434652
gene symbol: PNCK
hgvsc: ENST00000434652.1:c.-2-103C>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000462280
gene symbol: PNCK
hgvsc: ENST00000462280.1:n.573-103C>T
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 954
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14987
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1856
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22783
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12108
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 279
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 539
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4247
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2135
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 859
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4868
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4620
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 802
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18027
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3993
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13427
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2265
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 206
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3366
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2896
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4205
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3805
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3930
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.981071926678621e-5
allele num: 20076
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.75e-1

DP
type: SiteQuality
SIO_000300: 6.40084e5

FS
type: SiteQuality
SIO_000300: 9.558e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.11e-2

QD
type: SiteQuality
SIO_000300: 1.046e1

VQSLOD
type: SiteQuality
SIO_000300: -1.044e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.58e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000489536
gene symbol: PNCK
hgvsc: ENST00000489536.1:n.56-107G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000472324
gene symbol: PNCK
hgvsc: ENST00000472324.1:n.24-107G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000411267
ensembl transcript: ENST00000418241
gene symbol: PNCK
hgvsc: ENST00000418241.1:c.-2-107G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000401542
ensembl transcript: ENST00000458354
gene symbol: PNCK
hgvsc: ENST00000458354.1:c.-2-107G>A
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 4101
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 521
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14969
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23096
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 930
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2027
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11817
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 452
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1875
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4731
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2276
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18150
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3394
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 800
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4028
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4755
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1964
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 781
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13449
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 69
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3870
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3814
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20115
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2886
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 229
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4149
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.73e0

DP
type: SiteQuality
SIO_000300: 6.38704e5

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.553e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000472324
gene symbol: PNCK
hgvsc: ENST00000472324.1:n.24-108C>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000359161
ensembl transcript: ENST00000370142
gene symbol: PNCK
hgvsc: ENST00000370142.1:c.-2-108C>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000340586
ensembl transcript: ENST00000340888
gene symbol: PNCK
hgvsc: ENST00000340888.3:c.-2-108C>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000396128
ensembl transcript: ENST00000434652
gene symbol: PNCK
hgvsc: ENST00000434652.1:c.-2-108C>T
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 2154
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 23175
bin: 7.5e0
variant carriers: 8

GenotypeDepth
all individuals: 3971
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 274
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 931
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 520
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11841
bin: 1.25e1
variant carriers: 5

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14900
bin: 2.5e0
variant carriers: 2

GenotypeDepth
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4009
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3990
bin: 1.75e1
variant carriers: 4

GenotypeQuality
all individuals: 2235
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19162
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1750
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 196
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13505
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4556
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 3402
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2260
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 460
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 209
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 746
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1547
bin: 9.75e1
variant carriers: 9

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 801
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2909
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 4.461851172475336e-4
allele num: 20171
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 229
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3834
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3868
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4205
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

DP
type: SiteQuality
SIO_000300: 6.40627e5

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.350000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.23e-1

FS
type: SiteQuality
SIO_000300: 5.126e0

QD
type: SiteQuality
SIO_000300: 1.621e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.24e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000396128
ensembl transcript: ENST00000434652
gene symbol: PNCK
hgvsc: ENST00000434652.1:c.-2-109G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000411267
ensembl transcript: ENST00000418241
gene symbol: PNCK
hgvsc: ENST00000418241.1:c.-2-109G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000463548
gene symbol: PNCK
hgvsc: ENST00000463548.1:n.71-109G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000359161
ensembl transcript: ENST00000370142
gene symbol: PNCK
hgvsc: ENST00000370142.1:c.-2-109G>C
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 273
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2204
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3939
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23269
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 522
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11775
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 14852
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 946
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4468
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19400
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4001
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 279
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2287
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1648
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 760
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13506
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2246
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3393
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1540
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 196
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3901
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 757
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3872
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2907
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3851
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.94486475794887e-5
allele num: 20223
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4197
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

FS
type: SiteQuality
SIO_000300: 2.276e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.91e-2

DP
type: SiteQuality
SIO_000300: 6.41541e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.77e-1

QD
type: SiteQuality
SIO_000300: 9.640000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000489536
gene symbol: PNCK
hgvsc: ENST00000489536.1:n.56-112A>G
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000377417
ensembl transcript: ENST00000393831
gene symbol: PNCK
hgvsc: ENST00000393831.2:c.-2-112A>G
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000488994
gene symbol: PNCK
hgvsc: ENST00000488994.1:n.289-112A>G
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000462280
gene symbol: PNCK
hgvsc: ENST00000462280.1:n.573-112A>G
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 11664
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3756
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14607
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 972
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2460
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23558
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 523
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13396
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3488
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3980
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1587
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4147
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3369
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2554
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20303
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 257
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1540
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 478
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2178
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.949025042066713e-5
allele num: 20206
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2939
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3839
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4209
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3808
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 231
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.597e0

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.96e-1

QD
type: SiteQuality
SIO_000300: 7.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.91e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.82e1

DP
type: SiteQuality
SIO_000300: 6.45184e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.55e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000401542
ensembl transcript: ENST00000458354
gene symbol: PNCK
hgvsc: ENST00000458354.1:c.-2-113G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000475172
gene symbol: PNCK
hgvsc: ENST00000475172.1:n.234-113G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000488994
gene symbol: PNCK
hgvsc: ENST00000488994.1:n.289-113G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000377417
ensembl transcript: ENST00000393831
gene symbol: PNCK
hgvsc: ENST00000393831.2:c.-2-113G>A
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23623
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2501
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 974
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 167
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3788
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14506
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11601
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 275
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 527
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13336
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2441
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 676
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3951
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1735
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3342
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1540
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 4163
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19823
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 728
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3904
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 474
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2177
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 223
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2931
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3745
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 9.960159362549801e-5
allele num: 20080
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 785
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3817
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4180
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.62e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.48e-1

QD
type: SiteQuality
SIO_000300: 2.054e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.59e0

FS
type: SiteQuality
SIO_000300: 1.819e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.91e-2

VQSLOD
type: SiteQuality
SIO_000300: -6.811e-1

DP
type: SiteQuality
SIO_000300: 6.46199e5

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000489536
gene symbol: PNCK
hgvsc: ENST00000489536.1:n.56-114C>G
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000488168
gene symbol: PNCK
hgvsc: ENST00000488168.1:n.73-114C>G
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000340586
ensembl transcript: ENST00000340888
gene symbol: PNCK
hgvsc: ENST00000340888.3:c.-2-114C>G
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000472324
gene symbol: PNCK
hgvsc: ENST00000472324.1:n.24-114C>G
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2647
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 11592
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14367
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 534
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3675
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 273
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 994
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23749
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 167
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1539
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3986
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1700
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13345
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 492
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3331
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 218
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3907
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2117
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3357
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 248
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2740
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20573
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 651
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20137
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3765
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2922
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4187
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.75e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.329e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.94e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -5.5e-1

QD
type: SiteQuality
SIO_000300: 1.693e1

DP
type: SiteQuality
SIO_000300: 6.49038e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.5e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000401542
ensembl transcript: ENST00000458354
gene symbol: PNCK
hgvsc: ENST00000458354.1:c.-2-125dupG
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000400671
ensembl transcript: ENST00000419804
gene symbol: PNCK
hgvsc: ENST00000419804.1:c.-2-125dupG
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000472324
gene symbol: PNCK
hgvsc: ENST00000472324.1:n.24-125dupG
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000396128
ensembl transcript: ENST00000434652
gene symbol: PNCK
hgvsc: ENST00000434652.1:c.-3+109dupG
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 12887
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 275
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24675
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 167
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 554
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3247
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1218
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 225
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11145
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3962
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 48
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 103
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1896
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3240
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3981
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 234
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 151
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1540
bin: 9.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3078
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3009
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 621
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3688
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12134
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22523
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 108
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 202
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 799
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4267
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20596
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3701
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3996
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3079
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.265e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.69e-2

QD
type: SiteQuality
SIO_000300: 2.421e1

VQSLOD
type: SiteQuality
SIO_000300: 3.69e0

DP
type: SiteQuality
SIO_000300: 6.76409e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000377417
ensembl transcript: ENST00000393831
gene symbol: PNCK
hgvsc: ENST00000393831.2:c.-2-134T>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000400671
ensembl transcript: ENST00000419804
gene symbol: PNCK
hgvsc: ENST00000419804.1:c.-2-134T>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000407173
ensembl transcript: ENST00000425526
gene symbol: PNCK
hgvsc: ENST00000425526.1:c.-2-134T>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000466638
gene symbol: PNCK
hgvsc: ENST00000466638.1:n.44-134T>C
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 643
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 224
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9048
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 26633
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 9450
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1924
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1741
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 287
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 8589
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 356
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27631
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9013
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2613
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1287
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 361
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1544
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 204
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9261
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2687
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1219
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4522
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3479
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.547770700636942e-4
allele num: 3925
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 930
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22460
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.08e-2

DP
type: SiteQuality
SIO_000300: 7.53852e5

QD
type: SiteQuality
SIO_000300: 7.73e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -3.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.031e0

VQSLOD
type: SiteQuality
SIO_000300: -3.862e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000407173
ensembl transcript: ENST00000425526
gene symbol: PNCK
hgvsc: ENST00000425526.1:c.-2-146G>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000397085
ensembl transcript: ENST00000433470
gene symbol: PNCK
hgvsc: ENST00000433470.1:c.-2-146G>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000340586
ensembl transcript: ENST00000340888
gene symbol: PNCK
hgvsc: ENST00000340888.3:c.-2-146G>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000396128
ensembl transcript: ENST00000434652
gene symbol: PNCK
hgvsc: ENST00000434652.1:c.-3+88G>T
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26417
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 296
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7355
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1632
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 226
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2479
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7463
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 760
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12025
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12628
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7175
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1265
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27705
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 467
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2099
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 9.75e1
variant carriers: 2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1089
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3852
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4145
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 3.838034926117827e-4
allele num: 5211
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4837
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.2161e5

MQRankSum
type: SiteQuality
SIO_000300: -4.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

QD
type: SiteQuality
SIO_000300: 1.444e1

VQSLOD
type: SiteQuality
SIO_000300: 5.04e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000400671
ensembl transcript: ENST00000419804
gene symbol: PNCK
hgvsc: ENST00000419804.1:c.-2-146G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000489536
gene symbol: PNCK
hgvsc: ENST00000489536.1:n.56-146G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000340586
ensembl transcript: ENST00000340888
gene symbol: PNCK
hgvsc: ENST00000340888.3:c.-2-146G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000463548
gene symbol: PNCK
hgvsc: ENST00000463548.1:n.70+88G>C
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 229
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1632
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2479
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7355
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 26417
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 12025
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7463
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 760
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 296
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 826
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1932
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7175
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2099
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27705
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 467
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1154
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 329
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1265
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1545
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 333
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 436
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12628
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5211
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 274
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4145
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1089
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24618
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4837
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3852
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -4.49e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

QD
type: SiteQuality
SIO_000300: 1.444e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.04e-1

DP
type: SiteQuality
SIO_000300: 8.2161e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000340586
ensembl transcript: ENST00000340888
gene symbol: PNCK
hgvsc: ENST00000340888.3:c.-2-151G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000489536
gene symbol: PNCK
hgvsc: ENST00000489536.1:n.56-151G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000401542
ensembl transcript: ENST00000458354
gene symbol: PNCK
hgvsc: ENST00000458354.1:c.-2-151G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000411267
ensembl transcript: ENST00000418241
gene symbol: PNCK
hgvsc: ENST00000418241.1:c.-2-151G>C
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 1597
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 26152
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 128
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 793
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 295
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2657
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 6811
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13119
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7015
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6658
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 495
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 822
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1932
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 424
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1333
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 345
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13574
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 296
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 743
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 312
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27455
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 403
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 502
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1710
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4201
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1137
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 5.011275369581559e-4
allele num: 3991
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5394
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4887
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25246
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.83e0

QD
type: SiteQuality
SIO_000300: 1.739e1

VQSLOD
type: SiteQuality
SIO_000300: -1.062e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.41387e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.37e-2

MQ
type: SiteQuality
SIO_000300: 5.884e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.92e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000400671
ensembl transcript: ENST00000419804
gene symbol: PNCK
hgvsc: ENST00000419804.1:c.-2-155G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000466638
gene symbol: PNCK
hgvsc: ENST00000466638.1:n.44-155G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000488994
gene symbol: PNCK
hgvsc: ENST00000488994.1:n.289-155G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000397085
ensembl transcript: ENST00000433470
gene symbol: PNCK
hgvsc: ENST00000433470.1:c.-2-155G>A
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6729
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25694
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 6502
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 228
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 13932
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 297
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1597
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 846
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2837
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 732
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1593
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1545
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 660
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1803
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26971
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6356
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 14357
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1448
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1248
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 545
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1191
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 25825
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4261
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5555
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 288
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4095
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4998
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.36e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.47e-2

QD
type: SiteQuality
SIO_000300: 1.615e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.57588e5

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000475172
gene symbol: PNCK
hgvsc: ENST00000475172.1:n.234-159A>G
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000411267
ensembl transcript: ENST00000418241
gene symbol: PNCK
hgvsc: ENST00000418241.1:c.-2-159A>G
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000488994
gene symbol: PNCK
hgvsc: ENST00000488994.1:n.289-159A>G
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000400671
ensembl transcript: ENST00000419804
gene symbol: PNCK
hgvsc: ENST00000419804.1:c.-2-159A>G
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1485
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 303
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 860
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6284
bin: 2.5e0
variant carriers: 2

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14666
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2973
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 25336
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 6550
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1296
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 672
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 380
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27020
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 378
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15524
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6191
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1495
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 617
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1669
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 372
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 537
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4159
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4331
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.790894271958755e-5
allele num: 26379
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1192
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5115
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5679
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 295
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.9e-1

QD
type: SiteQuality
SIO_000300: 1.041e1

DP
type: SiteQuality
SIO_000300: 8.70514e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.32e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 1.824e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000397085
ensembl transcript: ENST00000433470
gene symbol: PNCK
hgvsc: ENST00000433470.1:c.-2-162G>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000359161
ensembl transcript: ENST00000370142
gene symbol: PNCK
hgvsc: ENST00000370142.1:c.-2-162G>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000415770
ensembl transcript: ENST00000439087
gene symbol: PNCK
hgvsc: ENST00000439087.1:c.-3+60G>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000489536
gene symbol: PNCK
hgvsc: ENST00000489536.1:n.56-162G>T
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 3071
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 901
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6196
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14995
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 6447
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 232
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 25030
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 231
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1520
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 355
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6118
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26844
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1622
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1546
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1075
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 677
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1326
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 286
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 1.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 119
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 352
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 386
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15860
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 303
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5749
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4350
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26735
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.390057361376673e-4
allele num: 4184
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5188
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.132e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.767e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 9.21e-1

QD
type: SiteQuality
SIO_000300: 1.109e1

DP
type: SiteQuality
SIO_000300: 8.78479e5

ClippingRankSum
type: SiteQuality
SIO_000300: 4.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.16e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000462280
gene symbol: PNCK
hgvsc: ENST00000462280.1:n.573-165G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000400671
ensembl transcript: ENST00000419804
gene symbol: PNCK
hgvsc: ENST00000419804.1:c.-2-165G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000466074
gene symbol: PNCK
hgvsc: ENST00000466074.1:n.19-165G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000472324
gene symbol: PNCK
hgvsc: ENST00000472324.1:n.24-165G>A
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 24712
bin: 7.5e0
variant carriers: 4

GenotypeDepth
all individuals: 3174
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 15178
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1543
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6436
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 931
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6171
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 232
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 307
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 557
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 649
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 26585
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1347
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 459
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 354
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6094
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1548
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 16005
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 291
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 437
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1377
bin: 3.25e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4217
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5817
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 304
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.716366879738367e-5
allele num: 26908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1226
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 5.781460782424359e-4
allele num: 5189
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.04e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.614e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.69e-1

FS
type: SiteQuality
SIO_000300: 1.568e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.96e-1

DP
type: SiteQuality
SIO_000300: 8.84023e5

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000465303
gene symbol: PNCK
hgvsc: ENST00000465303.1:n.26-175C>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000489536
gene symbol: PNCK
hgvsc: ENST00000489536.1:n.56-175C>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000395360
ensembl transcript: ENST00000423545
gene symbol: PNCK
hgvsc: ENST00000423545.1:c.-2-175C>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000415770
ensembl transcript: ENST00000439087
gene symbol: PNCK
hgvsc: ENST00000439087.1:c.-3+47C>T
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 321
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6137
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15312
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1571
bin: 1.75e1
variant carriers: 4

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 236
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23842
bin: 7.5e0
variant carriers: 4

GenotypeDepth
all individuals: 3560
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1025
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6664
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 949
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26433
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1403
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1551
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 122
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 581
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 262
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1243
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 6130
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 532
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1482
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 540
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16621
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 401
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 7.94912559618442e-4
allele num: 1258
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5943
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4265
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 1.458257382427999e-4
allele num: 27430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4421
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

DP
type: SiteQuality
SIO_000300: 8.98163e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.16e-2

QD
type: SiteQuality
SIO_000300: 1.258e1

FS
type: SiteQuality
SIO_000300: 4.793e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.56e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.036e0

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000397085
ensembl transcript: ENST00000433470
gene symbol: PNCK
hgvsc: ENST00000433470.1:c.-2-180G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000472324
gene symbol: PNCK
hgvsc: ENST00000472324.1:n.24-180G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000462280
gene symbol: PNCK
hgvsc: ENST00000462280.1:n.573-180G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000400671
ensembl transcript: ENST00000419804
gene symbol: PNCK
hgvsc: ENST00000419804.1:c.-2-180G>C
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 990
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3697
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1577
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 128
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 232
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14643
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 320
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7157
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23561
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 6459
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 237
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6459
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 400
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 750
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15578
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1255
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 497
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 610
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1417
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1556
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1550
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 239
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1221
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26354
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 643
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5934
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4410
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1263
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 2.337540906965872e-4
allele num: 4278
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27437
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5426
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.91773e5

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.029e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.53e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-2

QD
type: SiteQuality
SIO_000300: 7.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.457e0

FS
type: SiteQuality
SIO_000300: 5.167e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.55e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000401542
ensembl transcript: ENST00000458354
gene symbol: PNCK
hgvsc: ENST00000458354.1:c.-2-185G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000391264
ensembl transcript: ENST00000411968
gene symbol: PNCK
hgvsc: ENST00000411968.1:c.-2-185G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000397085
ensembl transcript: ENST00000433470
gene symbol: PNCK
hgvsc: ENST00000433470.1:c.-2-185G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000396128
ensembl transcript: ENST00000434652
gene symbol: PNCK
hgvsc: ENST00000434652.1:c.-3+49G>A
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 6635
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3877
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 233
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 324
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14426
bin: 2.25e1
variant carriers: 5

GenotypeDepth
all individuals: 1386
bin: 1.75e1
variant carriers: 4

GenotypeDepth
all individuals: 178
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23233
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7484
bin: 1.25e1
variant carriers: 4

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1012
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 223
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 99
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16149
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 294
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 864
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26875
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1243
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1498
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 394
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 276
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 325
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6652
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 577
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1452
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1557
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 381
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4409
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1270
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4293
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 2.698327037236913e-3
allele num: 5559
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 27575
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.0e0

QD
type: SiteQuality
SIO_000300: 2.175e1

FS
type: SiteQuality
SIO_000300: 1.589e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.49e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e-1

DP
type: SiteQuality
SIO_000300: 8.92131e5

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000340586
ensembl transcript: ENST00000340888
gene symbol: PNCK
hgvsc: ENST00000340888.3:c.-2-193G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000466638
gene symbol: PNCK
hgvsc: ENST00000466638.1:n.44-193G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000359161
ensembl transcript: ENST00000370142
gene symbol: PNCK
hgvsc: ENST00000370142.1:c.-2-193G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000397085
ensembl transcript: ENST00000433470
gene symbol: PNCK
hgvsc: ENST00000433470.1:c.-2-193G>A
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 234
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7652
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9009
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4053
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12387
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1058
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22331
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1440
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 128
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27129
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 611
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7764
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1337
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 850
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1679
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 228
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1554
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1437
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14470
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5841
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1247
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 310
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4186
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4345
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.376535241397116e-5
allele num: 27113
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.7035e5

MQ
type: SiteQuality
SIO_000300: 5.896e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.02e-1

FS
type: SiteQuality
SIO_000300: 1.082e0

MQRankSum
type: SiteQuality
SIO_000300: -4.21e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.34e-1

QD
type: SiteQuality
SIO_000300: 1.161e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.66e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.252e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000397085
ensembl transcript: ENST00000433470
gene symbol: PNCK
hgvsc: ENST00000433470.1:c.-2-198C>G
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000396128
ensembl transcript: ENST00000434652
gene symbol: PNCK
hgvsc: ENST00000434652.1:c.-3+36C>G
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000395360
ensembl transcript: ENST00000423545
gene symbol: PNCK
hgvsc: ENST00000423545.1:c.-2-198C>G
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000466638
gene symbol: PNCK
hgvsc: ENST00000466638.1:n.44-198C>G
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11151
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3678
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 128
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 241
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1073
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9299
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 331
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9348
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 21216
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1973
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26446
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1824
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1464
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 753
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 922
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 538
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10985
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9517
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 235
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1218
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2094
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 448
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5590
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.80908848512551e-5
allele num: 26253
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4015
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1166
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5594
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.98e-2

FS
type: SiteQuality
SIO_000300: 3.315e0

MQ
type: SiteQuality
SIO_000300: 5.92e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.5e-2

DP
type: SiteQuality
SIO_000300: 8.23997e5

MQRankSum
type: SiteQuality
SIO_000300: 7.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.045e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000411267
ensembl transcript: ENST00000418241
gene symbol: PNCK
hgvsc: ENST00000418241.1:c.-2-217G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000465303
gene symbol: PNCK
hgvsc: ENST00000465303.1:n.26-217G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000405950
ensembl transcript: ENST00000447676
gene symbol: PNCK
hgvsc: ENST00000447676.2:c.248-217G>C
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 332
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18646
bin: 7.5e0
variant carriers: 1

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3418
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4839
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14017
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12740
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 912
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2195
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20648
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2890
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 978
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2945
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2265
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5550
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14347
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 370
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2880
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3769
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 914
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23429
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3531
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5435
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e-1

QD
type: SiteQuality
SIO_000300: 6.86e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-2

MQ
type: SiteQuality
SIO_000300: 5.863e1

DP
type: SiteQuality
SIO_000300: 7.15268e5

MQRankSum
type: SiteQuality
SIO_000300: 6.18e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000397085
ensembl transcript: ENST00000433470
gene symbol: PNCK
hgvsc: ENST00000433470.1:c.-2-217G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000462280
gene symbol: PNCK
hgvsc: ENST00000462280.1:n.573-217G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000400671
ensembl transcript: ENST00000419804
gene symbol: PNCK
hgvsc: ENST00000419804.1:c.-2-217G>A
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 2195
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3418
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4839
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14017
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 912
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12740
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18646
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5550
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2880
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1331
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20648
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2945
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 186
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 236
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2265
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14347
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 390
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 978
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2890
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3531
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5010
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5435
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.268214605830381e-5
allele num: 23429
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3769
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 276
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 914
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.18e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e-1

QD
type: SiteQuality
SIO_000300: 6.86e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.8e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 7.15268e5

VQSLOD
type: SiteQuality
SIO_000300: 1.39e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000400671
ensembl transcript: ENST00000419804
gene symbol: PNCK
hgvsc: ENST00000419804.1:c.-2-218C>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000465303
gene symbol: PNCK
hgvsc: ENST00000465303.1:n.26-218C>T
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000411267
ensembl transcript: ENST00000418241
gene symbol: PNCK
hgvsc: ENST00000418241.1:c.-2-218C>T
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2219
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 14061
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 18646
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3350
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 53
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 905
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 12771
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4813
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2836
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2838
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2113
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 365
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 237
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14407
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 390
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 275
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20727
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2939
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 327
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5633
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5428
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 2.683123155352831e-4
allele num: 3727
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 23278
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 275
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3519
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4969
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.847e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.98e-2

DP
type: SiteQuality
SIO_000300: 7.14477e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.624e1

VQSLOD
type: SiteQuality
SIO_000300: -3.764e-1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000397085
ensembl transcript: ENST00000433470
gene symbol: PNCK
hgvsc: ENST00000433470.1:c.-2-228G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000466074
gene symbol: PNCK
hgvsc: ENST00000466074.1:n.19-228G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000465303
gene symbol: PNCK
hgvsc: ENST00000465303.1:n.26-228G>C
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10984
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 820
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3650
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 232
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3974
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1786
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15659
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19351
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 238
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 321
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 381
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2759
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3837
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 526
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15653
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3516
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 217
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1558
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1653
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16149
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 894
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4449
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 483
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2164
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3030
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5203
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3024
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 3.012048192771085e-4
allele num: 3320
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4411
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 705
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20576
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.97e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.702e0

QD
type: SiteQuality
SIO_000300: 2.068e1

DP
type: SiteQuality
SIO_000300: 6.68322e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.43e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000475172
gene symbol: PNCK
hgvsc: ENST00000475172.1:n.233+210G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000411267
ensembl transcript: ENST00000418241
gene symbol: PNCK
hgvsc: ENST00000418241.1:c.-2-229G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000340586
ensembl transcript: ENST00000340888
gene symbol: PNCK
hgvsc: ENST00000340888.3:c.-2-229G>C
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 178
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 819
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 19470
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3954
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3628
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15726
bin: 2.5e0
variant carriers: 1

GenotypeDepth
all individuals: 237
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1761
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10839
bin: 1.25e1
variant carriers: 3

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 323
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 232
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3769
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15795
bin: 2.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3544
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 489
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2404
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2987
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15724
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4571
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1559
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 397
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 382
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2725
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2946
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 698
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4333
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5172
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 9.855129594954174e-5
allele num: 20294
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 6.112469437652812e-4
allele num: 3272
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 252
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.689e1

DP
type: SiteQuality
SIO_000300: 6.65588e5

VQSLOD
type: SiteQuality
SIO_000300: 3.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.72e-1

FS
type: SiteQuality
SIO_000300: 1.893e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.41e-2

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000359169
ensembl transcript: ENST00000370150
gene symbol: PNCK
hgvsc: ENST00000370150.1:c.-3+208G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000489536
gene symbol: PNCK
hgvsc: ENST00000489536.1:n.56-231G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000405950
ensembl transcript: ENST00000447676
gene symbol: PNCK
hgvsc: ENST00000447676.2:c.248-231G>A
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 129
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10421
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1732
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 805
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19893
bin: 7.5e0
variant carriers: 2

GenotypeDepth
all individuals: 3863
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 240
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15897
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 321
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 232
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3540
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1672
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 503
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 259
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1557
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 200
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 564
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2311
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4857
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2994
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15217
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15825
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2752
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 3662
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 395
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3793
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 393
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 6.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5140
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 248
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2894
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4216
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3213
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 2.00692388741157e-4
allele num: 19931
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 668
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e0

DP
type: SiteQuality
SIO_000300: 6.58287e5

VQSLOD
type: SiteQuality
SIO_000300: -2.287e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.38e-2

QD
type: SiteQuality
SIO_000300: 2.182e1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000359169
ensembl transcript: ENST00000370150
gene symbol: PNCK
hgvsc: ENST00000370150.1:c.-3+203G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000359161
ensembl transcript: ENST00000370142
gene symbol: PNCK
hgvsc: ENST00000370142.1:c.-2-236G>C
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000395360
ensembl transcript: ENST00000423545
gene symbol: PNCK
hgvsc: ENST00000423545.1:c.-2-236G>C
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 20704
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3724
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9548
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 15987
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3590
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 326
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 781
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1685
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12654
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1563
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2966
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15394
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2641
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5469
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3205
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5474
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 913
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5067
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 2.583311805734952e-4
allele num: 3871
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3068
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18771
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2629
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.43e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 2.269e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

VQSLOD
type: SiteQuality
SIO_000300: -2.285e0

DP
type: SiteQuality
SIO_000300: 6.50891e5

QD
type: SiteQuality
SIO_000300: 5.66e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000359169
ensembl transcript: ENST00000370150
gene symbol: PNCK
hgvsc: ENST00000370150.1:c.-3+203G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000475172
gene symbol: PNCK
hgvsc: ENST00000475172.1:n.233+203G>A
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000400671
ensembl transcript: ENST00000419804
gene symbol: PNCK
hgvsc: ENST00000419804.1:c.-2-236G>A
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 326
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9548
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 3724
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 20704
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 244
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 15987
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1685
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3590
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 781
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5474
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 913
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3205
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12654
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5469
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 15394
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3084
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2641
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 138
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 351
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2966
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1563
bin: 9.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.803727653100038e-4
allele num: 2629
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18771
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3871
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3068
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5067
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.43e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.285e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 5.66e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 6.50891e5

FS
type: SiteQuality
SIO_000300: 2.269e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl transcript: ENST00000465303
gene symbol: PNCK
hgvsc: ENST00000465303.1:n.26-240C>G
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000395360
ensembl transcript: ENST00000423545
gene symbol: PNCK
hgvsc: ENST00000423545.1:c.-2-240C>G
variant of: http://identifiers.org/hgnc/13415

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000130822
ensembl protein: ENSP00000359169
ensembl transcript: ENST00000370150
gene symbol: PNCK
hgvsc: ENST00000370150.1:c.-3+199C>G
variant of: http://identifiers.org/hgnc/13415

GenotypeDepth
all individuals: 3606
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 242
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 52
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16043
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 20973
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 3602
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 56
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9348
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1681
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 128
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 166
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 94
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 788
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 329
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 49
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 358
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2598
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3509
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 406
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 149
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5531
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14977
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6908
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 404
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2994
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11151
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2978
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1563
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 503
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2544
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2981
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18185
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3712
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.709401709401709e-3
allele num: 585
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5048
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.71e-1

QD
type: SiteQuality
SIO_000300: 5.29e0

VQSLOD
type: SiteQuality
SIO_000300: -2.108e0

DP
type: SiteQuality
SIO_000300: 6.49793e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.89e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

MQ
type: SiteQuality
SIO_000300: 5.82e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.381e0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 159
bin: 1.25e1
variant carriers: 12

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 7

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 5

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 10324
bin: 7.5e0
variant carriers: 12

GenotypeQuality
all individuals: 166
bin: 1.75e1
variant carriers: 15

GenotypeQuality
all individuals: 80
bin: 2.75e1
variant carriers: 3

GenotypeQuality
all individuals: 4
bin: 7.25e1
variant carriers: 2

GenotypeQuality
all individuals: 605
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 269
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 65
bin: 3.25e1
variant carriers: 5

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2002
bin: 2.25e1
variant carriers: 9

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

GenotypeQuality
all individuals: 13
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 2
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

South Asian
type: Population
allele count: 30
allele frequency: 4.950495049504951e-2
allele num: 606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 3.10077519379845e-2
allele num: 129
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 9.090909090909091e-2
allele num: 11
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.840000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.49e-2

QD
type: SiteQuality
SIO_000300: 2.175e1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.977e0

DP
type: SiteQuality
SIO_000300: 4.9336e4

VQSLOD
type: SiteQuality
SIO_000300: -2.706e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

GenotypeQuality
all individuals: 12738
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 573
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2465
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 278
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 1.75e1
variant carriers: 3

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 67
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 9.75e1
variant carriers: 2

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 3
allele frequency: 5.882352941176471e-2
allele num: 51
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 834
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 11
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -7.94e-2

ReadPosRankSum
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FS
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BaseQRankSum
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DP
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SIO_000300: 6.3674e4

QD
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VQSLOD
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MQRankSum
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SIO_000300: -3.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.370000000000001e-1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 97
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2090
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European (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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VQSLOD
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ClippingRankSum
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DP
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FS
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QD
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MQRankSum
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InbreedingCoeff
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SIO_000300: -7.46e-2

MQ
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SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.36e-1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 4326
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 485
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 492
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.557e0

ClippingRankSum
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VQSLOD
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QD
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ReadPosRankSum
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SIO_000300: -1.557e0

MQ
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SIO_000300: 6.0e1

MQRankSum
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SIO_000300: -4.67e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.82e-2

DP
type: SiteQuality
SIO_000300: 3.33283e5

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 105
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 41
allele frequency: 6.589521054323369e-3
allele num: 6222
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1006
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.126126126126126e-3
allele num: 888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4728
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 909
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.25e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.012e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

QD
type: SiteQuality
SIO_000300: 1.812e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.34e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.425e0

DP
type: SiteQuality
SIO_000300: 4.20988e5

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 324
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4793
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.92492781520693e-3
allele num: 1039
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.48214021046391e-4
allele num: 6747
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 957
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1107
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.734e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 1.36e0

MQRankSum
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SIO_000300: 1.09e0

BaseQRankSum
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SIO_000300: 2.55e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.42e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.789e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

DP
type: SiteQuality
SIO_000300: 4.32673e5

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 7

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1614
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.868471953578337e-3
allele num: 517
num of homozygotes: 0

African
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allele count: 2
allele frequency: 1.392757660167131e-3
allele num: 1436
num of homozygotes: 0

European (Non-Finnish)
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allele count: 136
allele frequency: 1.354851564056585e-2
allele num: 10038
num of homozygotes: 0

South Asian
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allele count: 103
allele frequency: 1.995350639287098e-2
allele num: 5162
num of homozygotes: 2

Latino
type: Population
allele count: 12
allele frequency: 6.607929515418502e-3
allele num: 1816
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 4.316546762589928e-2
allele num: 139
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.566e0

BaseQRankSum
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DP
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QD
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MQ
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MQRankSum
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InbreedingCoeff
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SIO_000300: 4.79e-2

ReadPosRankSum
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ClippingRankSum
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SIO_000300: 1.91e-1

VQSLOD
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SIO_000300: 1.85e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1249
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 5.034486230680159e-5
allele num: 19863
num of homozygotes: 0

Latino
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African
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allele frequency: 0.0e0
allele num: 2881
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Other
type: Population
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allele num: 250
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South Asian
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East Asian
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
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InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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DP
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1506
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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East Asian
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allele count: 0
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Latino
type: Population
allele count: 3
allele frequency: 5.711022272986865e-4
allele num: 5253
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.123e0

MQ
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InbreedingCoeff
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SIO_000300: -1.23e-2

ReadPosRankSum
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ClippingRankSum
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DP
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QD
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FS
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VQSLOD
type: SiteQuality
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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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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 271
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1541
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3744
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.550147263990079e-4
allele num: 6451
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22794
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.678e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.18e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -4.495e-1

DP
type: SiteQuality
SIO_000300: 7.57352e5

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6651
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5791
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 24669
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3694
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1742
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 7.376444553725104e-4
allele num: 4067
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 299
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 5.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.93e-1

MQRankSum
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -2.65e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.323e0

BaseQRankSum
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SIO_000300: -1.589e0

DP
type: SiteQuality
SIO_000300: 8.03483e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.29e-2

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.928686484111876e-4
allele num: 6829
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4276
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3949
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1877
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 26024
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6087
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 8.29584e5

MQRankSum
type: SiteQuality
SIO_000300: -8.070000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.691e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.081e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.69e-1

FS
type: SiteQuality
SIO_000300: 3.104e0

MQ
type: SiteQuality
SIO_000300: 5.914e1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
all individuals: 336
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.638877770095702e-5
allele num: 27481
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6968
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4281
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4503
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2020
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

QD
type: SiteQuality
SIO_000300: 9.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 6.96e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 8.62319e5

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.741e0

GenotypeQuality
all individuals: 1009
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variant carriers: 0

GenotypeQuality
all individuals: 312
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 68
bin: 9.75e1
variant carriers: 5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2253
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4833
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.440714594438842e-4
allele num: 6941
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4634
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 3.030711206896552e-4
allele num: 29696
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7217
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 2.777777777777778e-3
allele num: 360
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.500000000000001e-2

DP
type: SiteQuality
SIO_000300: 9.16165e5

QD
type: SiteQuality
SIO_000300: 1.602e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.793e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7401
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5177
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.661698163428267e-4
allele num: 7514
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: 380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 32139
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: -8.75e-1

QD
type: SiteQuality
SIO_000300: 2.676e1

ReadPosRankSum
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SIO_000300: -1.015e0

DP
type: SiteQuality
SIO_000300: 9.72244e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.7e-3

BaseQRankSum
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SIO_000300: -2.556e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.55e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.223e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1000
bin: 7.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5139
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 6.154035508784885e-5
allele num: 32499
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 7.877116975187081e-4
allele num: 2539
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7558
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7482
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5236
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Other
type: Population
allele count: 1
allele frequency: 2.604166666666667e-3
allele num: 384
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.673e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

FS
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.81453e5

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6029
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.698658060132495e-4
allele num: 5887
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 37950
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 453
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3186
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8319
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8285
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.2e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 3.43e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.74e-1

DP
type: SiteQuality
SIO_000300: 1.125074e6

GenotypeQuality
all individuals: 921
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34850
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 39865
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8563
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3437
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6089
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6315
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.165229550221394e-4
allele num: 8582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 489
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.269e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.732e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

QD
type: SiteQuality
SIO_000300: 1.484e1

DP
type: SiteQuality
SIO_000300: 1.181423e6

FS
type: SiteQuality
SIO_000300: 1.447e0

MQ
type: SiteQuality
SIO_000300: 5.883e1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.1e-3

GenotypeQuality
all individuals: 1714
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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
all individuals: 1098
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 221
bin: 9.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.494947730845039e-5
allele num: 40081
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8616
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8593
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3468
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6117
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.791e1

VQSLOD
type: SiteQuality
SIO_000300: -7.22e-2

MQ
type: SiteQuality
SIO_000300: 5.934e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.187817e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.49e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 4

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 39103
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 5.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3962
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6820
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 537
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9077
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6386
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 4.448893337782227e-4
allele num: 8991
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.229e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.9e-3

QD
type: SiteQuality
SIO_000300: 3.147e1

VQSLOD
type: SiteQuality
SIO_000300: -1.868e0

MQRankSum
type: SiteQuality
SIO_000300: 9.9e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.325e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.23e-1

DP
type: SiteQuality
SIO_000300: 1.285571e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.05e-1

GenotypeQuality
all individuals: 539
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
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GenotypeQuality
all individuals: 141
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
all individuals: 501
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GenotypeQuality
all individuals: 1936
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6878
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6437
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 1.099263493459382e-4
allele num: 9097
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9054
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.577497024626934e-5
allele num: 43692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4097
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.517e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.29e-1

MQ
type: SiteQuality
SIO_000300: 5.971e1

VQSLOD
type: SiteQuality
SIO_000300: 9.62e-1

FS
type: SiteQuality
SIO_000300: 4.709e0

MQRankSum
type: SiteQuality
SIO_000300: -1.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.397e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.583e0

DP
type: SiteQuality
SIO_000300: 1.301954e6

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
all individuals: 1429
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 518
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6913
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4153
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.278838703796545e-5
allele num: 43882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9074
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9090
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6453
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.11e-1

FS
type: SiteQuality
SIO_000300: 3.415e0

DP
type: SiteQuality
SIO_000300: 1.306484e6

MQRankSum
type: SiteQuality
SIO_000300: -8.26e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.08e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

QD
type: SiteQuality
SIO_000300: 9.140000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.81e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.732e-1

GenotypeQuality
all individuals: 1429
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 5
allele frequency: 5.54385186827808e-4
allele num: 9019
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43895
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6897
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4169
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6453
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 549
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.306388e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.6e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.6e-2

MQ
type: SiteQuality
SIO_000300: 5.922e1

VQSLOD
type: SiteQuality
SIO_000300: 7.86e-1

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
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QD
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MQRankSum
type: SiteQuality
SIO_000300: -2.15e-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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 298
bin: 5.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6472
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.269580808424684e-5
allele num: 44061
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4252
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6972
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 557
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8827
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.8e-3

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.620000000000001e-1

QD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.95e1

FS
type: SiteQuality
SIO_000300: 1.2339e1

MQRankSum
type: SiteQuality
SIO_000300: 8.67e-1

BaseQRankSum
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SIO_000300: -9.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.91e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 598
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9147
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6471
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6994
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.801801801801802e-3
allele num: 555
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8835
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44093
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4260
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.931e1

QD
type: SiteQuality
SIO_000300: 2.754e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

DP
type: SiteQuality
SIO_000300: 1.311768e6

VQSLOD
type: SiteQuality
SIO_000300: -5.33e-2

FS
type: SiteQuality
SIO_000300: 0.0e0