5-177652392-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652392
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652392
    reference: chr 5
allele count: 2196
allele frequency: 1.814696063200344e-2
allele num: 121012
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.377A>G
  hgvsp: ENSP00000310978.5:p.His126Arg
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4549A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-662A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.406A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.173A>G
  hgvsp: ENSP00000424608.1:p.His58Arg
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1304A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.419A>G
  hgvsp: ENSP00000321290.4:p.His140Arg
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.689A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.149A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1441A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5191A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*430A>G
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2985
  bin: 4.25e1
  variant carriers: 156
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 6.75e1
  variant carriers: 85
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 9.75e1
  variant carriers: 403
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.25e1
  variant carriers: 52
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 17935
  bin: 2.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 6.25e1
  variant carriers: 128
genotype depth: GenotypeDepth
  all individuals: 4356
  bin: 3.75e1
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 20879
  bin: 2.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8025
  bin: 3.25e1
  variant carriers: 122
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 4.75e1
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 8.25e1
  variant carriers: 89
genotype quality: GenotypeQuality
hgvs: p.His126Arg
num of homozygotes: 148
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

5-177652395-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652395
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652395
    reference: chr 5
allele count: 1
allele frequency: 8.273625337150233e-6
allele num: 120866
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.170G>C
  hgvsp: ENSP00000424608.1:p.Arg57Pro
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.403G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.146G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1438G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4546G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.416G>C
  hgvsp: ENSP00000321290.4:p.Arg139Pro
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.374G>C
  hgvsp: ENSP00000310978.5:p.Arg125Pro
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-665G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1301G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.686G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*427G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5188G>C
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21025
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg125Pro
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

5-177652395-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652395
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652395
    reference: chr 5
allele count: 1
allele frequency: 8.273625337150233e-6
allele num: 120866
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*427G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.374G>A
  hgvsp: ENSP00000310978.5:p.Arg125His
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-665G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.686G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4546G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.416G>A
  hgvsp: ENSP00000321290.4:p.Arg139His
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.170G>A
  hgvsp: ENSP00000424608.1:p.Arg57His
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5188G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1301G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.146G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1438G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.403G>A
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21025
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg125His
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-177652396-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652396
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652396
    reference: chr 5
allele count: 1
allele frequency: 8.259548037531387e-6
allele num: 121072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1300C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.169C>T
  hgvsp: ENSP00000424608.1:p.Arg57Cys
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4545C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.415C>T
  hgvsp: ENSP00000321290.4:p.Arg139Cys
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5187C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.685C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.373C>T
  hgvsp: ENSP00000310978.5:p.Arg125Cys
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-666C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.145C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.402C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*426C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1437C>T
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4367
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1141
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20977
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg125Cys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP

5-177652397-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652397
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652397
    reference: chr 5
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*425T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.684T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4544T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-667T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1299T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.414T>C
  hgvsp: ENST00000323594.4:c.414T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1436T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.372T>C
  hgvsp: ENST00000308158.5:c.372T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.168T>C
  hgvsp: ENST00000510913.1:c.168T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5186T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.144T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.401T>C
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8377
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20971
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4369
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18824
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala124Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

http://identifiers.org/exac.variant/5-177652399-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652399
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652399
    reference: chr 5
allele count: 1
allele frequency: 8.259002312520648e-6
allele num: 121080
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4542G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.370G>T
  hgvsp: ENSP00000310978.5:p.Ala124Ser
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.682G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1434G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1297G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-669G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*423G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.142G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.412G>T
  hgvsp: ENSP00000321290.4:p.Ala138Ser
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.166G>T
  hgvsp: ENSP00000424608.1:p.Ala56Ser
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5184G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.399G>T
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18887
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20997
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4371
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala124Ser
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

5-177652411-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652411
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652411
    reference: chr 5
allele count: 2
allele frequency: 1.652127940787734e-5
allele num: 121056
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.358G>A
  hgvsp: ENSP00000310978.5:p.Ala120Thr
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-681G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.400G>A
  hgvsp: ENSP00000321290.4:p.Ala134Thr
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5172G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1285G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.154G>A
  hgvsp: ENSP00000424608.1:p.Ala52Thr
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.670G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4530G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.387G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*411G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.130G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1422G>A
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18927
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20863
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Ala120Thr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum

5-177652426-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652426
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652426
    reference: chr 5
allele count: 2
allele frequency: 1.656506758547575e-5
allele num: 120736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.655G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-696G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.115G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*396G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.139G>C
  hgvsp: ENSP00000424608.1:p.Glu47Gln
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.385G>C
  hgvsp: ENSP00000321290.4:p.Glu129Gln
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5157G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.372G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4515G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1270G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1407G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.343G>C
  hgvsp: ENSP00000310978.5:p.Glu115Gln
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18776
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8332
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu115Gln
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

5-177652427-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652427
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652427
    reference: chr 5
allele count: 1
allele frequency: 8.282670995742708e-6
allele num: 120734
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.138A>C
  hgvsp: ENST00000510913.1:c.138A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-697A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.342A>C
  hgvsp: ENST00000308158.5:c.342A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.384A>C
  hgvsp: ENST00000323594.4:c.384A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.654A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*395A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.114A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.371A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1406A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4514A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1269A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5156A>C
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 725
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8337
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser114Ser
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD

5-177652435-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652435
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652435
    reference: chr 5
allele count: 118
allele frequency: 9.784735812133072e-4
allele num: 120596
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5148C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-705C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4506C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.646C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.368-5C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.339-5C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.111-5C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1403-5C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1266-5C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*392-5C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.381-5C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.135-5C>T
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 9.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 8274
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1778
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18602
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4368
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 19878
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 5.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: c.339-5C>T
num of homozygotes: 2
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

5-177652438-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652438
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652438
    reference: chr 5
allele count: 1
allele frequency: 8.297240337863626e-6
allele num: 120522
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.339-8G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5145G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1403-8G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4503G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.368-8G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-708G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.643G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.381-8G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.111-8G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1266-8G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*392-8G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.135-8G>A
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4375
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19665
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8312
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.339-8G>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

5-177652443-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652443
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652443
    reference: chr 5
allele count: 1
allele frequency: 8.311861025683651e-6
allele num: 120310
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.381-13T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*392-13T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.135-13T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.368-13T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4498T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5140T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.638T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.111-13T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1403-13T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1266-13T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-713T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.339-13T>C
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD

5-177652443-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652443
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652442
    reference: chr 5
allele count: 1
allele frequency: 8.311861025683651e-6
allele num: 120310
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.339-14delC
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.637delC
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5139delC
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.135-14delC
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.111-14delC
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1266-14delC
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-714delC
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.368-14delC
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4497delC
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*392-14delC
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1403-14delC
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.381-14delC
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1787
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8278
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4366
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18455
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18866
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: AG
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

5-177652447-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652447
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652447
    reference: chr 5
allele count: 1
allele frequency: 8.333472224537076e-6
allele num: 119998
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.339-17C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-717C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.368-17C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1266-17C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.135-17C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.634C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4494C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*392-17C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1403-17C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.111-17C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5136C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.381-17C>T
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17765
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1192
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2838
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

5-177652448-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652448
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652448
    reference: chr 5
allele count: 1
allele frequency: 8.333750020834376e-6
allele num: 119994
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*392-18C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4493C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.633C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.381-18C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5135C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.339-18C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.135-18C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.368-18C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-718C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1266-18C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1403-18C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.111-18C>A
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8229
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18016
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4370
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD

5-177652452-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652452
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652452
    reference: chr 5
allele count: 1
allele frequency: 8.34599142032082e-6
allele num: 119818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-722A>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.629A>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.339-22A>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.111-22A>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1403-22A>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.381-22A>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.135-22A>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5131A>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.368-22A>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4489A>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*392-22A>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1266-22A>T
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3774
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

5-177652452-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652452
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652452
    reference: chr 5
allele count: 1
allele frequency: 8.34599142032082e-6
allele num: 119818
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-722A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.629A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5131A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4489A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.135-22A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.368-22A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1403-22A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.381-22A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*392-22A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.339-22A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1266-22A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.111-22A>C
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2957
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8092
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1886
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16716
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17515
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

5-177652455-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652455
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652455
    reference: chr 5
allele count: 1
allele frequency: 8.360225391676559e-6
allele num: 119614
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.339-25G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1266-25G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.368-25G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.626G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*392-25G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5128G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.381-25G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4486G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.111-25G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-725G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1403-25G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.135-25G>C
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4348
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2962
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum

5-177652459-GAGAGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652459
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652454
    reference: chr 5
allele count: 2
allele frequency: 1.673416111650323e-5
allele num: 119516
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.135-34_135-30delACTCT
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4477_381+4481delACTCT
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*392-34_*392-30delACTCT
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1266-34_1266-30delACTCT
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.111-34_111-30delACTCT
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.381-34_381-30delACTCT
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-734_179-730delACTCT
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5119_359+5123delACTCT
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.617_621delACTCT
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.339-34_339-30delACTCT
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1403-34_1403-30delACTCT
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.368-34_368-30delACTCT
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16163
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 697
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4323
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14307
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: GAGAGT
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

5-177652463-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652463
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652463
    reference: chr 5
allele count: 4
allele frequency: 3.350869550648393e-5
allele num: 119372
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.618C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.368-33C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.135-33C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.111-33C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-733C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*392-33C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.339-33C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4478C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.381-33C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5120C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1266-33C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1403-33C>G
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14850
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12400
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

5-177652466-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652466
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652466
    reference: chr 5
allele count: 1
allele frequency: 8.389684044498884e-6
allele num: 119194
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.381-36C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.339-36C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.135-36C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.111-36C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-736C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.615C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1403-36C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4475C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1266-36C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*392-36C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5117C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.368-36C>T
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1784
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11126
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8995
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7388
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6673
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

5-177652469-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652469
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652469
    reference: chr 5
allele count: 1
allele frequency: 8.405480373203328e-6
allele num: 118970
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5114A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4472A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-739A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.135-39A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.612A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.111-39A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.339-39A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.368-39A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*392-39A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1266-39A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.381-39A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1403-39A>G
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6711
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11001
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7142
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4289
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

5-177652470-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177652470
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177652470
    reference: chr 5
allele count: 1
allele frequency: 8.405197774303629e-6
allele num: 118974
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.339-40T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1266-40T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+5113T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.179-740T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*392-40T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.135-40T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.368-40T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.111-40T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.381-40T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1403-40T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481436
  gene symbol: PHYKPL
  hgvsc: ENST00000481436.1:n.611T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+4471T>C
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7028
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6714
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10299
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4273
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11533
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

5-177655512-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177655512
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177655512
    reference: chr 5
allele count: 794
allele frequency: 7.390171258376768e-2
allele num: 10744
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.134+1429A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.*45A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.367+1429A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+1429A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+2071A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*391+1187A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.380+1429A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.338+1429A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+2894A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1402+1429A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.329+1429A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1265+1429A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.110+1429A>C
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 7.5e0
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1019
  bin: 3.75e1
  variant carriers: 148
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.75e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 2.5e0
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 1126
  bin: 3.25e1
  variant carriers: 143
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 5.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 4.75e1
  variant carriers: 93
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.25e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 2.75e1
  variant carriers: 92
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 5.25e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 39
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

http://identifiers.org/exac.variant/5-177655530-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177655530
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177655530
    reference: chr 5
allele count: 1
allele frequency: 9.310986964618249e-5
allele num: 10740
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.380+1411T>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.*27T>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+2876T>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*391+1169T>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.134+1411T>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+2053T>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.110+1411T>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1402+1411T>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.367+1411T>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.338+1411T>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.329+1411T>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+1411T>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1265+1411T>G
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2536
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

5-177655569-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177655569
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177655569
    reference: chr 5
allele count: 1
allele frequency: 9.291953168556031e-5
allele num: 10762
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.367+1372G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.110+1372G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1265+1372G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*391+1130G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.329+1372G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.338+1372G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+2014G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.360G>C
  hgvsp: ENSP00000421810.1:p.Lys120Asn
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1402+1372G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+2837G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.380+1372G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.134+1372G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+1372G>C
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2165
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys120Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum

5-177655606-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177655606
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177655606
    reference: chr 5
allele count: 1
allele frequency: 9.295408068414203e-5
allele num: 10758
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.329+1335C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.338+1335C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.339-16C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*391+1093C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+1335C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1402+1335C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+2800C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.134+1335C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.380+1335C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.367+1335C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.110+1335C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1265+1335C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+1977C>T
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum

5-177655612-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177655612
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177655612
    reference: chr 5
allele count: 1
allele frequency: 9.297136481963555e-5
allele num: 10756
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.110+1329A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.380+1329A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+2794A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1265+1329A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.339-22A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+1329A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1402+1329A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.367+1329A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*391+1087A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.329+1329A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.134+1329A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+1971A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.338+1329A>G
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2199
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

5-177656896-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656896
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656896
    reference: chr 5
allele count: 1
allele frequency: 8.331944675887353e-6
allele num: 120020
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.134+45A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*368+45A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1265+45A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+687A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1402+45A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.110+45A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1510A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.329+45A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.338+45A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+45A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.338+45A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.380+45A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.367+45A>G
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4704
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6824
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2099
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

5-177656899-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656899
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656899
    reference: chr 5
allele count: 3
allele frequency: 2.500333377783705e-5
allele num: 119984
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1265+42G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.338+42G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.110+42G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+684G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.367+42G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.134+42G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1402+42G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.338+42G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1507G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.329+42G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*368+42G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.380+42G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+42G>A
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3035
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3466
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3672
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4705
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2493
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5891
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD

5-177656900-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656900
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656900
    reference: chr 5
allele count: 17696
allele frequency: 1.473536955001166e-1
allele num: 120092
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+683G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.338+41G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*368+41G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1506G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.110+41G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.367+41G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+41G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.134+41G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.329+41G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1402+41G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.380+41G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1265+41G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.338+41G>A
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 7.75e1
  variant carriers: 1044
genotype depth: GenotypeDepth
  all individuals: 6177
  bin: 4.75e1
  variant carriers: 970
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3352
  bin: 3.25e1
  variant carriers: 467
genotype depth: GenotypeDepth
  all individuals: 4728
  bin: 6.25e1
  variant carriers: 1363
genotype depth: GenotypeDepth
  all individuals: 5428
  bin: 4.25e1
  variant carriers: 817
genotype depth: GenotypeDepth
  all individuals: 1601
  bin: 8.25e1
  variant carriers: 886
genotype depth: GenotypeDepth
  all individuals: 4160
  bin: 3.75e1
  variant carriers: 563
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 7.5e0
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 2249
  bin: 9.75e1
  variant carriers: 1513
genotype depth: GenotypeDepth
  all individuals: 2841
  bin: 7.25e1
  variant carriers: 1208
genotype depth: GenotypeDepth
  all individuals: 5641
  bin: 5.75e1
  variant carriers: 1395
genotype depth: GenotypeDepth
  all individuals: 3751
  bin: 6.75e1
  variant carriers: 1356
genotype depth: GenotypeDepth
  all individuals: 1762
  bin: 1.75e1
  variant carriers: 573
genotype depth: GenotypeDepth
  all individuals: 3387
  bin: 2.25e1
  variant carriers: 624
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 1.25e1
  variant carriers: 329
genotype quality: GenotypeQuality
num of homozygotes: 1615
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

5-177656901-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656901
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656901
    reference: chr 5
allele count: 21
allele frequency: 1.74537475689423e-4
allele num: 120318
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.380+40C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.338+40C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.338+40C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*368+40C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+40C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1402+40C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+682C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.367+40C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1505C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.329+40C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.110+40C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.134+40C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1265+40C>T
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4355
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3383
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 7.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum

5-177656913-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656913
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656913
    reference: chr 5
allele count: 1
allele frequency: 8.290086714307032e-6
allele num: 120626
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.110+28A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.134+28A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.338+28A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*368+28A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.338+28A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+670A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1265+28A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.329+28A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.367+28A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.380+28A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1402+28A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+28A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1493A>G
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3693
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4939
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 524
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 896
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/5-177656915-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656915
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656915
    reference: chr 5
allele count: 1
allele frequency: 8.286377195889957e-6
allele num: 120680
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.134+26G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+668G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*368+26G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.329+26G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.338+26G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.367+26G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1265+26G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.380+26G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1402+26G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.110+26G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1491G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.338+26G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+26G>T
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5711
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5858
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

5-177656916-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656916
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656916
    reference: chr 5
allele count: 3
allele frequency: 2.486490070616318e-5
allele num: 120652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+667G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.338+25G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+25G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1265+25G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1402+25G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.110+25G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1490G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.329+25G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.338+25G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.134+25G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*368+25G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.380+25G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.367+25G>A
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3683
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5000
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

5-177656917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656917
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656917
    reference: chr 5
allele count: 4
allele frequency: 3.313068398297083e-5
allele num: 120734
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1402+24C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.329+24C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.110+24C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+24C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1265+24C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1489C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.338+24C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.380+24C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.134+24C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.338+24C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.367+24C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+666C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*368+24C>T
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5100
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3807
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD

5-177656917-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656917
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656917
    reference: chr 5
allele count: 10
allele frequency: 8.282670995742707e-5
allele num: 120734
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1489C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+666C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+24C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1402+24C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.110+24C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.380+24C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.338+24C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.134+24C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*368+24C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1265+24C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.329+24C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.338+24C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.367+24C>G
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 4099
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3686
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ

5-177656921-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656921
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656921
    reference: chr 5
allele count: 9
allele frequency: 7.443922450870112e-5
allele num: 120904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1402+20C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.329+20C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1485C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.110+20C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+662C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.338+20C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.134+20C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*368+20C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.338+20C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.380+20C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1265+20C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+20C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.367+20C>T
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5220
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4275
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2639
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: QD

5-177656923-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656923
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656923
    reference: chr 5
allele count: 2
allele frequency: 1.653247805313538e-5
allele num: 120974
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.367+18A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.380+18A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+18A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+660A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.338+18A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.110+18A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.329+18A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1402+18A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*368+18A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1483A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.338+18A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.134+18A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1265+18A>G
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5860
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3841
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6649
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5720
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4360
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: MQ

5-177656936-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656936
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656936
    reference: chr 5
allele count: 2
allele frequency: 1.650519088253256e-5
allele num: 121174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.338+5G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1402+5G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.338+5G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.329+5G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+647G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.110+5G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.134+5G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.380+5G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*368+5G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+5G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1470G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1265+5G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.367+5G>C
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3688
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3922
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.338+5G>C
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

5-177656940-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656940
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656940
    reference: chr 5
allele count: 3
allele frequency: 2.474716644944154e-5
allele num: 121226
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.338+1G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+643G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.329+1G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1466G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.367+1G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.134+1G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1265+1G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*368+1G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.110+1G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.380+1G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.381+1G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.338+1G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1402+1G>A
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3918
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.338+1G>A
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

5-177656950-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656950
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656950
    reference: chr 5
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*359T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.101T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.358T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.329T>C
  hgvsp: ENSP00000310978.5:p.Leu110Pro
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.372T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.125T>C
  hgvsp: ENSP00000424608.1:p.Leu42Pro
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.329T>C
  hgvsp: ENSP00000421810.1:p.Leu110Pro
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1393T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+633T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.371T>C
  hgvsp: ENSP00000321290.4:p.Leu124Pro
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.320T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1456T>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1256T>C
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu110Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

5-177656956-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656956
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656956
    reference: chr 5
allele count: 5
allele frequency: 4.120856478810556e-5
allele num: 121334
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.352A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.366A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.323A>G
  hgvsp: ENSP00000310978.5:p.Tyr108Cys
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.95A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*353A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.365A>G
  hgvsp: ENSP00000321290.4:p.Tyr122Cys
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.314A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1387A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.119A>G
  hgvsp: ENSP00000424608.1:p.Tyr40Cys
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.323A>G
  hgvsp: ENSP00000421810.1:p.Tyr108Cys
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1250A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+627A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1450A>G
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2638
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr108Cys
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

5-177656956-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656956
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656956
    reference: chr 5
allele count: 2
allele frequency: 1.648342591524222e-5
allele num: 121334
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.119A>C
  hgvsp: ENSP00000424608.1:p.Tyr40Ser
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.95A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.365A>C
  hgvsp: ENSP00000321290.4:p.Tyr122Ser
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.323A>C
  hgvsp: ENSP00000310978.5:p.Tyr108Ser
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.323A>C
  hgvsp: ENSP00000421810.1:p.Tyr108Ser
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1250A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.366A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+627A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.352A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1450A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.314A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*353A>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1387A>C
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3934
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4752
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1459
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5400
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4388
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Tyr108Ser
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD

5-177656958-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656958
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656958
    reference: chr 5
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*351C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.321C>T
  hgvsp: ENST00000308158.5:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.93C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.321C>T
  hgvsp: ENST00000476170.2:c.321C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.350C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.364C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.363C>T
  hgvsp: ENST00000323594.4:c.363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.312C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1448C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1248C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.117C>T
  hgvsp: ENST00000510913.1:c.117C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1385C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+625C>T
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1864
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe107Phe
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-177656958-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656958
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656958
    reference: chr 5
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.312C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1385C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*351C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.350C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.321C>A
  hgvsp: ENSP00000310978.5:p.Phe107Leu
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+625C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1448C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.117C>A
  hgvsp: ENSP00000424608.1:p.Phe39Leu
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.93C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.363C>A
  hgvsp: ENSP00000321290.4:p.Phe121Leu
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1248C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.321C>A
  hgvsp: ENSP00000421810.1:p.Phe107Leu
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.364C>A
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4755
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe107Leu
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

5-177656965-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656965
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656965
    reference: chr 5
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1378G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.314G>A
  hgvsp: ENSP00000310978.5:p.Cys105Tyr
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.314G>A
  hgvsp: ENSP00000421810.1:p.Cys105Tyr
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.356G>A
  hgvsp: ENSP00000321290.4:p.Cys119Tyr
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1441G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+618G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.343G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.110G>A
  hgvsp: ENSP00000424608.1:p.Cys37Tyr
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*344G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.305G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.357G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.86G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1241G>A
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4389
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3949
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5715
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3691
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys105Tyr
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: C
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

5-177656967-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656967
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656967
    reference: chr 5
allele count: 2
allele frequency: 1.647772211969417e-5
allele num: 121376
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1439C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.312C>T
  hgvsp: ENST00000476170.2:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.312C>T
  hgvsp: ENST00000308158.5:c.312C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.108C>T
  hgvsp: ENST00000510913.1:c.108C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1239C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.84C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1376C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.341C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.354C>T
  hgvsp: ENST00000323594.4:c.354C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*342C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+616C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.355C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.303C>T
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu104Leu
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

5-177656976-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656976
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656976
    reference: chr 5
allele count: 4
allele frequency: 3.295381522795802e-5
allele num: 121382
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.303G>A
  hgvsp: ENST00000476170.2:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*333G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1430G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1367G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.332G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.303G>A
  hgvsp: ENST00000308158.5:c.303G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.345G>A
  hgvsp: ENST00000323594.4:c.345G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1230G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.294G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+607G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.346G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.75G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.99G>A
  hgvsp: ENST00000510913.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro101Pro
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

5-177656979-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656979
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656979
    reference: chr 5
allele count: 2
allele frequency: 1.647582173160887e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.343G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.300G>A
  hgvsp: ENST00000308158.5:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.342G>A
  hgvsp: ENST00000323594.4:c.342G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.72G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.291G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*330G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.300G>A
  hgvsp: ENST00000476170.2:c.300G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1227G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1427G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1364G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+604G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.96G>A
  hgvsp: ENST00000510913.1:c.96G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.329G>A
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3954
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu100Leu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: South Asian
population: Latino
reference allele: C
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

5-177656982-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656982
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656982
    reference: chr 5
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1361C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.340C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.297C>G
  hgvsp: ENST00000308158.5:c.297C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*327C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.93C>G
  hgvsp: ENST00000510913.1:c.93C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+601C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.326C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.288C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.69C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.297C>G
  hgvsp: ENST00000476170.2:c.297C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.339C>G
  hgvsp: ENST00000323594.4:c.339C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1424C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1224C>G
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1453
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5397
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6647
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr99Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/5-177656985-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177656985
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177656985
    reference: chr 5
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+598G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.294G>T
  hgvsp: ENSP00000421810.1:p.Glu98Asp
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.90G>T
  hgvsp: ENSP00000424608.1:p.Glu30Asp
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.337G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.336G>T
  hgvsp: ENSP00000321290.4:p.Glu112Asp
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1358G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.323G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.66G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.294G>T
  hgvsp: ENSP00000310978.5:p.Glu98Asp
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.285G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*324G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1221G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1421G>T
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu98Asp
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

5-177657000-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177657000
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177657000
    reference: chr 5
allele count: 3
allele frequency: 2.471210398853358e-5
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.75G>A
  hgvsp: ENST00000510913.1:c.75G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.322G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.321G>A
  hgvsp: ENST00000323594.4:c.321G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.51G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.279G>A
  hgvsp: ENST00000308158.5:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1343G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.270G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+583G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1406G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.279G>A
  hgvsp: ENST00000476170.2:c.279G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.308G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1206G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*309G>A
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4827
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3956
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala93Ala
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum

5-177657011-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177657011
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177657011
    reference: chr 5
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.268G>A
  hgvsp: ENSP00000310978.5:p.Val90Met
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*298G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1395G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1332G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.268G>A
  hgvsp: ENSP00000421810.1:p.Val90Met
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.64G>A
  hgvsp: ENSP00000424608.1:p.Val22Met
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.40G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.310G>A
  hgvsp: ENSP00000321290.4:p.Val104Met
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.259G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1195G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+572G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.311G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.297G>A
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4399
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3689
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val90Met
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum

5-177657012-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177657012
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177657012
    reference: chr 5
allele count: 6
allele frequency: 4.942420797706717e-5
allele num: 121398
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.267C>T
  hgvsp: ENST00000308158.5:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.296C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.310C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1394C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.309C>T
  hgvsp: ENST00000323594.4:c.309C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.258C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.63C>T
  hgvsp: ENST00000510913.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1331C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1194C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.267C>T
  hgvsp: ENST00000476170.2:c.267C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.39C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*297C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+571C>T
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4834
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1865
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile89Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP

5-177657016-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177657016
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177657016
    reference: chr 5
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*293A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+567A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.305A>G
  hgvsp: ENSP00000321290.4:p.Asn102Ser
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1390A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.263A>G
  hgvsp: ENSP00000421810.1:p.Asn88Ser
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.59A>G
  hgvsp: ENSP00000424608.1:p.Asn20Ser
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.254A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.263A>G
  hgvsp: ENSP00000310978.5:p.Asn88Ser
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.35A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1190A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.306A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1327A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.292A>G
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6646
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5363
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn88Ser
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: DP

5-177657017-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177657017
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177657017
    reference: chr 5
allele count: 30
allele frequency: 2.471251112063e-4
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+566A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*292A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.304A>G
  hgvsp: ENSP00000321290.4:p.Asn102Asp
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.34A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.291A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.305A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.262A>G
  hgvsp: ENSP00000421810.1:p.Asn88Asp
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1326A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1189A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.253A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.262A>G
  hgvsp: ENSP00000310978.5:p.Asn88Asp
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.58A>G
  hgvsp: ENSP00000424608.1:p.Asn20Asp
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1389A>G
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 9.75e1
  variant carriers: 27
genotype depth: GenotypeDepth
  all individuals: 5359
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1866
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4868
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5857
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asn88Asp
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

5-177657018-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177657018
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177657018
    reference: chr 5
allele count: 9
allele frequency: 7.413753336189001e-5
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.304C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*291C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.261C>A
  hgvsp: ENSP00000421810.1:p.Asp87Glu
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.252C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1388C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.57C>A
  hgvsp: ENSP00000424608.1:p.Asp19Glu
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1325C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.33C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.261C>A
  hgvsp: ENSP00000310978.5:p.Asp87Glu
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1188C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.303C>A
  hgvsp: ENSP00000321290.4:p.Asp101Glu
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+565C>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.290C>A
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5357
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3957
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5717
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4871
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1311
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4839
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp87Glu
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP

5-177657022-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177657022
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177657022
    reference: chr 5
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1384A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1321A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.29A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1184A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.286A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.248A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*287A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+561A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.299A>G
  hgvsp: ENSP00000321290.4:p.His100Arg
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.53A>G
  hgvsp: ENSP00000424608.1:p.His18Arg
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.257A>G
  hgvsp: ENSP00000310978.5:p.His86Arg
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.300A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.257A>G
  hgvsp: ENSP00000421810.1:p.His86Arg
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4398
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1870
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4873
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His86Arg
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

5-177657031-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177657031
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177657031
    reference: chr 5
allele count: 4
allele frequency: 3.295164346321773e-5
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.248G>A
  hgvsp: ENSP00000421810.1:p.Arg83Gln
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*278G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1175G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.291G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.248G>A
  hgvsp: ENSP00000310978.5:p.Arg83Gln
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.44G>A
  hgvsp: ENSP00000424608.1:p.Arg15Gln
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.290G>A
  hgvsp: ENSP00000321290.4:p.Arg97Gln
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+552G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1375G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.20G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.239G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.277G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1312G>A
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6651
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5723
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3687
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4824
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg83Gln
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: QD

5-177657032-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177657032
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177657032
    reference: chr 5
allele count: 4
allele frequency: 3.295164346321773e-5
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.247C>T
  hgvsp: ENSP00000421810.1:p.Arg83Trp
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.*277C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.289C>T
  hgvsp: ENSP00000321290.4:p.Arg97Trp
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.178+1374C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.247C>T
  hgvsp: ENSP00000310978.5:p.Arg83Trp
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000506001
  gene symbol: PHYKPL
  hgvsc: ENST00000506001.1:n.276C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.238C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.1311C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.1174C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000424608
  ensembl transcript: ENST00000510913
  gene symbol: PHYKPL
  hgvsc: ENST00000510913.1:c.43C>T
  hgvsp: ENSP00000424608.1:p.Arg15Trp
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000510991
  gene symbol: PHYKPL
  hgvsc: ENST00000510991.1:n.290C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000514424
  gene symbol: PHYKPL
  hgvsc: ENST00000514424.1:n.19C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000481811
  gene symbol: PHYKPL
  hgvsc: ENST00000481811.1:n.359+551C>T
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6605
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4874
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6652
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2640
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5317
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4823
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg83Trp
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS

6-90382316-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90382316
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 90382316
    reference: chr 6
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112159
  ensembl protein: ENSP00000413970
  ensembl transcript: ENST00000428876
  gene symbol: MDN1
  hgvsc: ENST00000428876.1:c.13580A>T
  hgvsp: ENSP00000413970.1:p.Asn4527Ile
  variant of: http://identifiers.org/hgnc/18302
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112159
  ensembl protein: ENSP00000358400
  ensembl transcript: ENST00000369393
  gene symbol: MDN1
  hgvsc: ENST00000369393.3:c.13580A>T
  hgvsp: ENSP00000358400.3:p.Asn4527Ile
  variant of: http://identifiers.org/hgnc/18302
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40652
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8438
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4512
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asn4527Ile
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66714
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/6-90382318-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90382318
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 90382318
    reference: chr 6
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112159
  ensembl protein: ENSP00000413970
  ensembl transcript: ENST00000428876
  gene symbol: MDN1
  hgvsc: ENST00000428876.1:c.13578G>T
  hgvsp: ENSP00000413970.1:p.Lys4526Asn
  variant of: http://identifiers.org/hgnc/18302
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112159
  ensembl protein: ENSP00000358400
  ensembl transcript: ENST00000369393
  gene symbol: MDN1
  hgvsc: ENST00000369393.3:c.13578G>T
  hgvsp: ENSP00000358400.3:p.Lys4526Asn
  variant of: http://identifiers.org/hgnc/18302
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15106
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8940
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 702
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4511
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2417
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40651
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8440
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys4526Asn
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16508
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

6-90382319-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90382319
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 90382319
    reference: chr 6
allele count: 1
allele frequency: 8.239539904091756e-6
allele num: 121366
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112159
  ensembl protein: ENSP00000358400
  ensembl transcript: ENST00000369393
  gene symbol: MDN1
  hgvsc: ENST00000369393.3:c.13577A>G
  hgvsp: ENSP00000358400.3:p.Lys4526Arg
  variant of: http://identifiers.org/hgnc/18302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112159
  ensembl protein: ENSP00000413970
  ensembl transcript: ENST00000428876
  gene symbol: MDN1
  hgvsc: ENST00000428876.1:c.13577A>G
  hgvsp: ENSP00000413970.1:p.Lys4526Arg
  variant of: http://identifiers.org/hgnc/18302
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8941
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4510
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1277
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
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genotype quality: GenotypeQuality
  all individuals: 31
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 9
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2418
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 497
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genotype quality: GenotypeQuality
  all individuals: 40659
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys4526Arg
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66714
  num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

6-90382333-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90382333
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 90382333
    reference: chr 6
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112159
  ensembl protein: ENSP00000358400
  ensembl transcript: ENST00000369393
  gene symbol: MDN1
  hgvsc: ENST00000369393.3:c.13563C>T
  hgvsp: ENST00000369393.3:c.13563C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112159
  ensembl protein: ENSP00000413970
  ensembl transcript: ENST00000428876
  gene symbol: MDN1
  hgvsc: ENST00000428876.1:c.13563C>T
  hgvsp: ENST00000428876.1:c.13563C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/18302
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 700
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2062
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 22
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8938
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15096
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 497
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 40641
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 4508
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genotype quality: GenotypeQuality
  all individuals: 8435
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 14
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genotype quality: GenotypeQuality
  all individuals: 2138
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asn4521Asn
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8652
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

6-90382336-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90382336
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 90382336
    reference: chr 6
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000112159
  ensembl protein: ENSP00000358400
  ensembl transcript: ENST00000369393
  gene symbol: MDN1
  hgvsc: ENST00000369393.3:c.13560G>C
  hgvsp: ENSP00000358400.3:p.Gln4520His
  variant of: http://identifiers.org/hgnc/18302
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000112159
  ensembl protein: ENSP00000413970
  ensembl transcript: ENST00000428876
  gene symbol: MDN1
  hgvsc: ENST00000428876.1:c.13560G>C
  hgvsp: ENSP00000413970.1:p.Gln4520His
  variant of: http://identifiers.org/hgnc/18302
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8937
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 701
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29461
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2063
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2416
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1274
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8433
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4507
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2136
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40643
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln4520His
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8652
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

6-90382348-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 90382348
    reference: chr 6
  end: Position
    type: ExactPosition
    position: 90382348
    reference: chr 6
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000112159
  ensembl protein: ENSP00000358400
  ensembl transcript: ENST00000369393
  gene symbol: MDN1
  hgvsc: ENST00000369393.3:c.13548C>G
  hgvsp: ENST00000369393.3:c.13548C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18302
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000112159
  ensembl protein: ENSP00000413970
  ensembl transcript: ENST00000428876
  gene symbol: MDN1
  hgvsc: ENST00000428876.1:c.13548C>G
  hgvsp: ENST00000428876.1:c.13548C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/18302
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29493
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 703
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8926
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2395
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4504
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8440
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2139
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Leu4516Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11562
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

GenotypeDepth
all individuals: 795
bin: 5.75e1
variant carriers: 140

GenotypeDepth
all individuals: 1200
bin: 5.25e1
variant carriers: 135

GenotypeQuality
all individuals: 215
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2362
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 2928
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 313
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 9430
bin: 9.75e1
variant carriers: 2021

GenotypeQuality
all individuals: 191
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 307
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32369
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 6813
bin: 6.75e1
variant carriers: 4

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1598
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2288
bin: 8.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1159
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 180
bin: 3.25e1
variant carriers: 3

East Asian
type: Population
allele count: 183
allele frequency: 2.116096207215541e-2
allele num: 8648
num of homozygotes: 5

African
type: Population
allele count: 1674
allele frequency: 1.613649508386351e-1
allele num: 10374
num of homozygotes: 140

Latino
type: Population
allele count: 200
allele frequency: 1.733102253032929e-2
allele num: 11540
num of homozygotes: 1

South Asian
type: Population
allele count: 19
allele frequency: 1.155296120637237e-3
allele num: 16446
num of homozygotes: 1

Other
type: Population
allele count: 10
allele frequency: 1.106194690265487e-2
allele num: 904
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 110
allele frequency: 1.653588286581883e-3
allele num: 66522
num of homozygotes: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.095e-1

DP
type: SiteQuality
SIO_000300: 1.85217e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.3e-2

FS
type: SiteQuality
SIO_000300: 6.069e0

MQRankSum
type: SiteQuality
SIO_000300: 1.59e-1

QD
type: SiteQuality
SIO_000300: 1.198e1

GenotypeDepth
all individuals: 248
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18619
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7109
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 7774
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 190
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3044
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2368
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33488
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8646
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.769441187964049e-5
allele num: 10236
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.416e0

MQ
type: SiteQuality
SIO_000300: 5.912e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e-1

QD
type: SiteQuality
SIO_000300: 4.91e0

VQSLOD
type: SiteQuality
SIO_000300: -1.897e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.78306e6

GenotypeDepth
all individuals: 51
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 18
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2368
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 225
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7109
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2445
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1195
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7774
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33488
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1678
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 335
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3044
bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10236
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16448
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

QD
type: SiteQuality
SIO_000300: 4.91e0

FS
type: SiteQuality
SIO_000300: 9.416e0

VQSLOD
type: SiteQuality
SIO_000300: -1.897e0

MQRankSum
type: SiteQuality
SIO_000300: -4.11e-1

MQ
type: SiteQuality
SIO_000300: 5.912e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.47e-1

DP
type: SiteQuality
SIO_000300: 1.78306e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeDepth
all individuals: 65
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34037
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3067
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2384
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7787
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1201
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7224
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1687
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2473
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10378
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.16e-1

QD
type: SiteQuality
SIO_000300: 1.164e1

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.29e0

FS
type: SiteQuality
SIO_000300: 6.51e-1

MQ
type: SiteQuality
SIO_000300: 5.923e1

DP
type: SiteQuality
SIO_000300: 1.782721e6

GenotypeDepth
all individuals: 392
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7787
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 94
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2384
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33999
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3070
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7220
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2473
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1686
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502313562886846e-5
allele num: 66564
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

ClippingRankSum
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SIO_000300: 3.35e0

InbreedingCoeff
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SIO_000300: -1.0e-4

VQSLOD
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MQRankSum
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SIO_000300: 1.45e-1

BaseQRankSum
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SIO_000300: 6.4e-1

MQ
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SIO_000300: 5.752e1

FS
type: SiteQuality
SIO_000300: 5.572e0

ReadPosRankSum
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SIO_000300: -2.909e0

DP
type: SiteQuality
SIO_000300: 1.782698e6

QD
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SIO_000300: 8.9e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

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

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

Latino
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allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 2.64e0

MQRankSum
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VQSLOD
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ClippingRankSum
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QD
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DP
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InbreedingCoeff
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SIO_000300: -1.0e-4

BaseQRankSum
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SIO_000300: -3.6e-2

ReadPosRankSum
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MQ
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SIO_000300: 6.0e1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6584
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.004807692307692e-5
allele num: 66560
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele count: 0
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BaseQRankSum
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SIO_000300: -2.361e0

ClippingRankSum
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SIO_000300: -3.63e-1

InbreedingCoeff
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SIO_000300: -1.0e-4

MQ
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SIO_000300: 5.871e1

QD
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SIO_000300: 8.98e0

VQSLOD
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SIO_000300: -6.62e-1

MQRankSum
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FS
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SIO_000300: 1.732e0

DP
type: SiteQuality
SIO_000300: 1.78304e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.59e-1

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 123
bin: 3.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16400
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.009781790820166e-5
allele num: 66450
num of homozygotes: 0

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.119e0

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

InbreedingCoeff
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SIO_000300: -4.0e-4

MQ
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SIO_000300: 5.875e1

VQSLOD
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DP
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SIO_000300: 1.776274e6

ReadPosRankSum
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SIO_000300: 5.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

BaseQRankSum
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SIO_000300: -7.81e-1

QD
type: SiteQuality
SIO_000300: 1.388e1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16380
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.682416731216112e-5
allele num: 10328
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11502
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66424
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.773525e6

VQSLOD
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FS
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SIO_000300: 2.218e0

ClippingRankSum
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BaseQRankSum
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ReadPosRankSum
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MQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: -1.0e-4

QD
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GenotypeDepth
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variant carriers: 4

GenotypeDepth
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variant carriers: 4

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11482
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66362
num of homozygotes: 0

East Asian
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Other
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allele num: 898
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European (Finnish)
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South Asian
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allele frequency: 7.090464547677261e-3
allele num: 16360
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InbreedingCoeff
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VQSLOD
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ClippingRankSum
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QD
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DP
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MQRankSum
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FS
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BaseQRankSum
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MQ
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ReadPosRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

ClippingRankSum
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SIO_000300: 1.17e0

FS
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SIO_000300: 0.0e0

QD
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MQ
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SIO_000300: 6.046e1

BaseQRankSum
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MQRankSum
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SIO_000300: 4.39e-1

ReadPosRankSum
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SIO_000300: -1.066e0

DP
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SIO_000300: 1.755564e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

VQSLOD
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SIO_000300: 2.26e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.510117789187557e-5
allele num: 66220
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

Latino
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num of homozygotes: 0

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

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

BaseQRankSum
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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ReadPosRankSum
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FS
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DP
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SIO_000300: 1.755564e6

QD
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SIO_000300: 7.43e0

GenotypeDepth
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variant carriers: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8600
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66058
num of homozygotes: 0

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

African
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allele frequency: 9.750390015600624e-5
allele num: 10256
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

BaseQRankSum
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SIO_000300: 9.51e-1

MQRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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FS
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MQ
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DP
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ClippingRankSum
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SIO_000300: 1.61e-1

VQSLOD
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6516
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66072
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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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

South Asian
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allele frequency: 6.140997297961189e-5
allele num: 16284
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 5.12e-1

InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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DP
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BaseQRankSum
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FS
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ClippingRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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GenotypeDepth
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.515518913676043e-5
allele num: 65984
num of homozygotes: 0

Latino
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num of homozygotes: 0

East Asian
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Other
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South Asian
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num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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QD
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FS
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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MQ
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DP
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 0

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

African
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allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele num: 65984
num of homozygotes: 0

East Asian
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num of homozygotes: 0

Latino
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num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

South Asian
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ReadPosRankSum
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DP
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BaseQRankSum
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QD
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FS
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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East Asian
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South Asian
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Other
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European (Non-Finnish)
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allele num: 65876
num of homozygotes: 0

African
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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DP
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FS
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QD
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ClippingRankSum
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GenotypeDepth
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variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11312
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 0.0e0
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African
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South Asian
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allele frequency: 1.231678778174652e-4
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East Asian
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Other
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VQSLOD
type: SiteQuality
SIO_000300: 9.320000000000001e-1

QD
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FS
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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MQRankSum
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DP
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 4

African
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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Latino
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South Asian
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European (Finnish)
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East Asian
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European (Non-Finnish)
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ReadPosRankSum
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ClippingRankSum
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QD
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DP
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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MQ
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 65656
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Latino
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South Asian
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ClippingRankSum
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VQSLOD
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FS
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QD
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BaseQRankSum
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MQRankSum
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MQ
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ReadPosRankSum
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InbreedingCoeff
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Finnish)
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South Asian
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African
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Latino
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European (Non-Finnish)
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East Asian
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MQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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ClippingRankSum
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DP
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QD
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 5.319148936170213e-3
allele num: 188
num of homozygotes: 0

Other
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East Asian
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South Asian
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European (Finnish)
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num of homozygotes: 0

European (Non-Finnish)
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num of homozygotes: 0

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

Other
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Latino
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66130
num of homozygotes: 0

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

Latino
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num of homozygotes: 0

Other
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MQ
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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FS
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DP
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ReadPosRankSum
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QD
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GenotypeDepth
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variant carriers: 520

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele frequency: 2.040770067698259e-1
allele num: 66176
num of homozygotes: 1348

European (Finnish)
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Other
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Latino
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African
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East Asian
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South Asian
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ReadPosRankSum
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QD
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MQ
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InbreedingCoeff
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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DP
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 66286
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European (Finnish)
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South Asian
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Other
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African
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East Asian
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Latino
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MQ
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QD
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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VQSLOD
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DP
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 1.50665943470138e-5
allele num: 66372
num of homozygotes: 0

South Asian
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African
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allele frequency: 0.0e0
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BaseQRankSum
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ClippingRankSum
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FS
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ReadPosRankSum
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DP
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VQSLOD
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MQRankSum
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InbreedingCoeff
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MQ
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

African
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allele frequency: 0.0e0
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Latino
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Other
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East Asian
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BaseQRankSum
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QD
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FS
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InbreedingCoeff
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ReadPosRankSum
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VQSLOD
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MQ
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ClippingRankSum
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MQRankSum
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DP
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SIO_000300: 3.024929e6

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.506296318611797e-5
allele num: 66388
num of homozygotes: 0

Other
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allele count: 0
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num of homozygotes: 0

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

East Asian
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South Asian
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allele frequency: 1.235330450895614e-4
allele num: 16190
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Latino
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African
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FS
type: SiteQuality
SIO_000300: 3.74e0

ReadPosRankSum
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MQ
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SIO_000300: 5.955e1

VQSLOD
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ClippingRankSum
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QD
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DP
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MQRankSum
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SIO_000300: -2.86e-1

BaseQRankSum
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SIO_000300: -1.643e0

InbreedingCoeff
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SIO_000300: -4.0e-4

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 1
allele frequency: 6.153846153846154e-5
allele num: 16250
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.011957471160507e-5
allele num: 66402
num of homozygotes: 0

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

Other
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allele count: 0
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num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.647526807333103e-5
allele num: 11564
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.19e-1

BaseQRankSum
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SIO_000300: 2.01e0

InbreedingCoeff
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VQSLOD
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MQRankSum
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FS
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ReadPosRankSum
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SIO_000300: 5.26e-1

DP
type: SiteQuality
SIO_000300: 3.03091e6

QD
type: SiteQuality
SIO_000300: 1.192e1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

South Asian
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele num: 6614
num of homozygotes: 0

African
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allele frequency: 9.648784253184099e-5
allele num: 10364
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.204782988464203e-4
allele num: 66402
num of homozygotes: 0

Other
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ReadPosRankSum
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VQSLOD
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DP
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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QD
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MQ
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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European (Non-Finnish)
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African
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East Asian
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allele frequency: 0.0e0
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European (Finnish)
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South Asian
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allele frequency: 5.514705882352941e-4
allele num: 16320
num of homozygotes: 0

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

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

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

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

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

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

Other
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num of homozygotes: 0

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

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 2.997242536866083e-5
allele num: 66728
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele frequency: 7.493106342165208e-5
allele num: 66728
num of homozygotes: 0

African
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Latino
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European (Finnish)
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allele num: 6614
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Other
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MQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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VQSLOD
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MQ
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FS
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BaseQRankSum
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QD
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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num of homozygotes: 0

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

GenotypeDepth
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variant carriers: 0

GenotypeQuality
all individuals: 1749
bin: 8.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42395
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

East Asian
type: Population
allele count: 3
allele frequency: 3.467406380027739e-4
allele num: 8652
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.12e0

MQRankSum
type: SiteQuality
SIO_000300: -1.9e-2

DP
type: SiteQuality
SIO_000300: 3.049109e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.95e-1

FS
type: SiteQuality
SIO_000300: 4.055e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

QD
type: SiteQuality
SIO_000300: 1.334e1

GenotypeDepth
all individuals: 1458
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1870
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3687
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5722
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 883
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8055
bin: 6.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42398
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1748
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1198
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2485
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1995
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1608
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.496268097479092e-5
allele num: 66722
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e0

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.2e-2

QD
type: SiteQuality
SIO_000300: 1.318e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.049048e6

MQ
type: SiteQuality
SIO_000300: 5.934e1

FS
type: SiteQuality
SIO_000300: 5.974e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.843044e6

MQ
type: SiteQuality
SIO_000300: 5.941e1

QD
type: SiteQuality
SIO_000300: 1.22e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.68e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.68e-1

FS
type: SiteQuality
SIO_000300: 5.266e0

MQRankSum
type: SiteQuality
SIO_000300: 9.419999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.244e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.1e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.036e0

MQ
type: SiteQuality
SIO_000300: 5.91e1

QD
type: SiteQuality
SIO_000300: 8.25e0

FS
type: SiteQuality
SIO_000300: 7.93e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.843101e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.89e-1

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

VQSLOD
type: SiteQuality
SIO_000300: 8.699999999999999e-3

MQ
type: SiteQuality
SIO_000300: 5.973e1

QD
type: SiteQuality
SIO_000300: 1.315e1

MQRankSum
type: SiteQuality
SIO_000300: 1.8e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.063e0

DP
type: SiteQuality
SIO_000300: 1.84304e6

FS
type: SiteQuality
SIO_000300: 9.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.169999999999999e-1

FS
type: SiteQuality
SIO_000300: 3.349e0

QD
type: SiteQuality
SIO_000300: 1.36e1

VQSLOD
type: SiteQuality
SIO_000300: 7.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.763e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.25e-1

DP
type: SiteQuality
SIO_000300: 1.842948e6

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499160470136723e-5
allele num: 66704
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.621e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.84286e6

VQSLOD
type: SiteQuality
SIO_000300: 8.57e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.37e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.796e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 1.126e0

QD
type: SiteQuality
SIO_000300: 1.419e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49934029027228e-5
allele num: 66696
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.97e-1