5-177658675-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658675
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658675
    reference: chr 5
allele count: 12
allele frequency: 3.116883116883117e-4
allele num: 38500
alternate allele: G
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.51-151G>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.60-151G>C
  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.60-151G>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.1100G>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.1118G>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.*84G>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.215G>C
  hgvsp: ENSP00000321290.4:p.Arg72Thr
  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.60-151G>C
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2959
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22029
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9246
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 17027
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3690
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24667
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2393
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17364
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg72Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

5-177658676-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658676
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658676
    reference: chr 5
allele count: 7
allele frequency: 1.826341056146942e-4
allele num: 38328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.60-152A>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.214A>C
  hgvsp: ENST00000323594.4:c.214A>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: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.51-152A>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.60-152A>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.*83A>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.1099A>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.60-152A>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.1117A>C
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22046
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9180
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17114
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24966
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg72Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/5-177658685-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658685
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658685
    reference: chr 5
allele count: 15
allele frequency: 4.459242523336702e-4
allele num: 33638
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.60-161G>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.1090G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.205G>T
  hgvsp: ENSP00000321290.4:p.Gly69Ter
  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.1108G>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.60-161G>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.*74G>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.51-161G>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.60-161G>T
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20848
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19960
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7395
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21149
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1787
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly69Ter
num of homozygotes: 1
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

5-177658685-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658685
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658685
    reference: chr 5
allele count: 7
allele frequency: 2.080979844223794e-4
allele num: 33638
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.60-161G>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.205G>A
  hgvsp: ENSP00000321290.4:p.Gly69Arg
  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.*74G>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.1108G>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.51-161G>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.1090G>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.60-161G>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.60-161G>A
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20848
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19960
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7395
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22057
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1053
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly69Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: QD

5-177658690-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658690
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658690
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 31484
alternate allele: C
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.1085C>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.51-166C>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.60-166C>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.60-166C>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.200C>G
  hgvsp: ENSP00000321290.4:p.Thr67Ser
  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.60-166C>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.*69C>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.1103C>G
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6496
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18464
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22982
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 725
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4741
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr67Ser
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-177658691-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658691
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658691
    reference: chr 5
allele count: 4
allele frequency: 1.287747086472217e-4
allele num: 31062
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.*68A>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.1102A>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.199A>G
  hgvsp: ENSP00000321290.4:p.Thr67Ala
  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.51-167A>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.60-167A>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.60-167A>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.1084A>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.60-167A>G
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23444
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6317
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3211
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18106
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr67Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ

5-177658694-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658694
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658694
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 29732
alternate allele: C
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.51-170A>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.60-170A>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.1099A>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.196A>G
  hgvsp: ENSP00000321290.4:p.Thr66Ala
  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.60-170A>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.1081A>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.*65A>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.60-170A>G
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17012
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2842
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24769
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1524
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 895
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr66Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

5-177658704-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658704
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658704
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 24848
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.60-180C>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.186C>T
  hgvsp: ENST00000323594.4:c.186C>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.1071C>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.60-180C>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.1089C>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.*55C>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.51-180C>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.60-180C>T
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 12988
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2771
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28820
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1406
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28893
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 975
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser62Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-177658715-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658715
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658715
    reference: chr 5
allele count: 1
allele frequency: 4.504098729844158e-5
allele num: 22202
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.*44C>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.51-191C>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.175C>T
  hgvsp: ENSP00000321290.4:p.Pro59Ser
  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.60-191C>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.1060C>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.1078C>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.60-191C>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.60-191C>T
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2780
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30893
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2577
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 945
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 839
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1035
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Pro59Ser
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP

5-177658718-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658718
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658718
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 21276
alternate allele: C
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.1057A>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.51-194A>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.1075A>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.172A>G
  hgvsp: ENSP00000321290.4:p.Thr58Ala
  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.60-194A>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.60-194A>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.*41A>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.60-194A>G
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8893
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31304
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1290
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2748
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7752
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Thr58Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-177658720-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658720
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658721
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 20908
alternate allele: AC
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.*38dupG
  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.51-197dupG
  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.1072dupG
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.169dupG
  hgvsp: ENSP00000321290.4:p.Val57GlyfsTer31
  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.60-197dupG
  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.60-197dupG
  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.1054dupG
  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.60-197dupG
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: frameshift
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1289
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8281
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31406
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2014
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2740
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31038
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1034
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val57GlyfsTer31
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

5-177658725-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658725
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658725
    reference: chr 5
allele count: 5
allele frequency: 2.527805864509606e-4
allele num: 19780
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.1068A>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.60-201A>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.1050A>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.60-201A>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.*34A>G
  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.165A>G
  hgvsp: ENST00000323594.4:c.165A>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: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.51-201A>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.60-201A>G
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2704
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31293
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2708
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6804
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 863
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30662
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg55Arg
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: FS

5-177658735-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658735
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658735
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 18178
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.155A>G
  hgvsp: ENSP00000321290.4:p.Lys52Arg
  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.1040A>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.1058A>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.60-211A>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.*24A>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.60-211A>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.51-211A>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.60-211A>G
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 29215
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4286
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 520
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 579
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Lys52Arg
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD

5-177658738-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658738
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658738
    reference: chr 5
allele count: 2
allele frequency: 1.099384344766931e-4
allele num: 18192
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.152C>T
  hgvsp: ENSP00000321290.4:p.Pro51Leu
  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.1055C>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.*21C>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.60-214C>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.51-214C>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.1037C>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.60-214C>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.60-214C>T
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2662
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4102
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro51Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: DP

5-177658758-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658758
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658758
    reference: chr 5
allele count: 57
allele frequency: 3.34075723830735e-3
allele num: 17062
alternate allele: G
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.51-234A>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.132A>C
  hgvsp: ENSP00000321290.4:p.Glu44Asp
  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.1017A>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.60-234A>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.1035A>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.*1A>C
  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.60-234A>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.60-234A>C
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 7.5e0
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 22374
  bin: 2.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 9.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 1261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1348
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4007
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Glu44Asp
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-177658771-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658771
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658772
    reference: chr 5
allele count: 1
allele frequency: 5.957345406886691e-5
allele num: 16786
alternate allele: GC
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.60-248dupG
  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.1021dupG
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.118dupG
  hgvsp: ENSP00000321290.4:p.Ala40GlyfsTer5
  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.60-248dupG
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.155dupG
  hgvsp: ENSP00000425425.1:p.His53ProfsTer47
  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.60-248dupG
  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.51-248dupG
  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.1003dupG
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2619
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1351
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16072
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ala40GlyfsTer5
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

5-177658772-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658772
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658772
    reference: chr 5
allele count: 1
allele frequency: 5.963029218843172e-5
allele num: 16770
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.60-248G>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.60-248G>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.60-248G>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.1021G>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.1003G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.155G>A
  hgvsp: ENSP00000425425.1:p.Gly52Asp
  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.118G>A
  hgvsp: ENSP00000321290.4:p.Ala40Thr
  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.51-248G>A
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17093
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15336
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 992
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala40Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

5-177658775-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658775
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658775
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 16740
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.1018G>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.60-251G>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.60-251G>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.115G>A
  hgvsp: ENSP00000321290.4:p.Glu39Lys
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.152G>A
  hgvsp: ENSP00000425425.1:p.Gly51Glu
  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.1000G>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.60-251G>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.51-251G>A
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16590
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1000
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1811
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu39Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

5-177658776-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658776
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658776
    reference: chr 5
allele count: 4
allele frequency: 2.390914524805738e-4
allele num: 16730
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.151G>C
  hgvsp: ENSP00000425425.1:p.Gly51Arg
  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.51-252G>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.999G>C
  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.60-252G>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.60-252G>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.1017G>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.114G>C
  hgvsp: ENSP00000321290.4:p.Lys38Asn
  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.60-252G>C
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16328
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2563
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 2.25e1
  variant carriers: 1
hgvs: p.Lys38Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

5-177658796-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658796
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658796
    reference: chr 5
allele count: 1
allele frequency: 6.040106305870983e-5
allele num: 16556
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.60-272A>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.979A>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.60-272A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.131A>G
  hgvsp: ENSP00000425425.1:p.Asp44Gly
  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.60-272A>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.997A>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.94A>G
  hgvsp: ENSP00000321290.4:p.Thr32Ala
  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.51-272A>G
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2582
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10993
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 879
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 695
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1045
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1441
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr32Ala
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD

5-177658798-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658798
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658798
    reference: chr 5
allele count: 15
allele frequency: 9.062348960850652e-4
allele num: 16552
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.60-274G>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.51-274G>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.60-274G>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.60-274G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.129G>A
  hgvsp: ENST00000493197.1:c.129G>A(p.%3D)
  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.92G>A
  hgvsp: ENSP00000321290.4:p.Arg31Gln
  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.977G>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.995G>A
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2516
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11087
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9871
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1202
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg31Gln
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD

5-177658800-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658800
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658800
    reference: chr 5
allele count: 4
allele frequency: 2.41925728801258e-4
allele num: 16534
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.127G>A
  hgvsp: ENSP00000425425.1:p.Ala43Thr
  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.90G>A
  hgvsp: ENST00000323594.4:c.90G>A(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: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.51-276G>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.60-276G>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.60-276G>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.975G>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.60-276G>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.993G>A
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 839
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2508
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1252
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 566
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala43Thr
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

5-177658855-TA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658855
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658854
    reference: chr 5
allele count: 1
allele frequency: 6.188884762965714e-5
allele num: 16158
alternate allele: T
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.919delT
  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.51-332delT
  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.60-332delT
  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.60-26delT
  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.60-332delT
  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.937delT
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.71delT
  hgvsp: ENSP00000425425.1:p.Leu24TyrfsTer153
  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.60-332delT
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 506
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5735
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2230
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2261
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5161
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1137
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu24TyrfsTer153
num of homozygotes: 0
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: TA
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

5-177658863-CGT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658863
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658861
    reference: chr 5
allele count: 1
allele frequency: 6.215040397762585e-5
allele num: 16090
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.60-341_60-340delAC
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.62_63delAC
  hgvsp: ENSP00000425425.1:p.His21ArgfsTer21
  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.60-35_60-34delAC
  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.928_929delAC
  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.60-341_60-340delAC
  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.51-341_51-340delAC
  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.60-341_60-340delAC
  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.910_911delAC
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2237
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 505
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1223
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 465
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 519
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His21ArgfsTer21
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
reference allele: CGT
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD

5-177658865-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658865
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658865
    reference: chr 5
allele count: 2
allele frequency: 1.244555071561916e-4
allele num: 16070
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.51-341A>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.60-35A>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.60-341A>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.910A>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.60-341A>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.928A>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.62A>T
  hgvsp: ENSP00000425425.1:p.His21Leu
  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.60-341A>T
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2115
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3189
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4831
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 6.75e1
  variant carriers: 0
hgvs: p.His21Leu
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
reference allele: T
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP

5-177658877-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658877
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658877
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 15888
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.60-353C>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.60-10C>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.51-353C>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.60-47C>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.898C>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.916C>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.60-353C>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.60-353C>A
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2141
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4539
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2103
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

5-177658881-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658881
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658881
    reference: chr 5
allele count: 1
allele frequency: 6.303580433686334e-5
allele num: 15864
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.60-51C>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.60-357C>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.912C>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.60-357C>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.60-14C>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.51-357C>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.60-357C>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.894C>A
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4449
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 479
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2126
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/5-177658883-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658883
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658883
    reference: chr 5
allele count: 15756
allele frequency: 9.900716350383311e-1
allele num: 15914
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.892G>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.60-16G>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.60-53G>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.60-359G>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.60-359G>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.910G>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.60-359G>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.51-359G>T
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 4.25e1
  variant carriers: 1048
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 6.25e1
  variant carriers: 174
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 7.5e0
  variant carriers: 877
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 387
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.25e1
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.75e1
  variant carriers: 115
genotype depth: GenotypeDepth
  all individuals: 1018
  bin: 2.75e1
  variant carriers: 1017
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 2.25e1
  variant carriers: 672
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 5.75e1
  variant carriers: 245
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 3.25e1
  variant carriers: 1246
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 1.75e1
  variant carriers: 395
genotype depth: GenotypeDepth
  all individuals: 1861
  bin: 2.5e0
  variant carriers: 1799
genotype depth: GenotypeDepth
  all individuals: 716
  bin: 4.75e1
  variant carriers: 716
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 1.25e1
  variant carriers: 496
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 1202
  bin: 3.75e1
  variant carriers: 1202
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 9.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.5e0
  variant carriers: 130
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 2.25e1
  variant carriers: 271
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 6.75e1
  variant carriers: 283
genotype quality: GenotypeQuality
  all individuals: 4933
  bin: 9.75e1
  variant carriers: 4933
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.75e1
  variant carriers: 335
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 3.25e1
  variant carriers: 225
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 5.25e1
  variant carriers: 145
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.75e1
  variant carriers: 180
num of homozygotes: 7802
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/5-177658896-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658896
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658896
    reference: chr 5
allele count: 4560
allele frequency: 2.994090610636901e-1
allele num: 15230
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.60-66T>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.879T>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.60-29T>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.897T>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.60-372T>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.51-372T>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.60-372T>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.60-372T>G
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 104
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3565
  bin: 2.5e0
  variant carriers: 404
genotype depth: GenotypeDepth
  all individuals: 1067
  bin: 2.25e1
  variant carriers: 602
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 6.75e1
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 163
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 6.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 3.75e1
  variant carriers: 426
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.75e1
  variant carriers: 363
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.25e1
  variant carriers: 287
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 7.5e0
  variant carriers: 422
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1090
  bin: 1.25e1
  variant carriers: 334
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 2.75e1
  variant carriers: 708
genotype depth: GenotypeDepth
  all individuals: 1233
  bin: 3.25e1
  variant carriers: 701
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 1.75e1
  variant carriers: 88
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 3.75e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 38
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 2.5e0
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 2653
  bin: 7.5e0
  variant carriers: 236
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.75e1
  variant carriers: 51
num of homozygotes: 697
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD

5-177658902-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658902
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658902
    reference: chr 5
allele count: 1
allele frequency: 6.775067750677507e-5
allele num: 14760
alternate allele: C
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.51-378A>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.60-35A>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.873A>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.891A>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.60-378A>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.60-378A>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.60-378A>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.60-72A>G
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 526
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 653
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP

5-177658903-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658903
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658904
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 14754
alternate allele: GC
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.871dupG
  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.51-380dupG
  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.60-74dupG
  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.60-380dupG
  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.60-380dupG
  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.889dupG
  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.60-380dupG
  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.60-37dupG
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1917
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5346
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 982
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4442
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

5-177658908-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177658908
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177658908
    reference: chr 5
allele count: 1
allele frequency: 6.878525244187646e-5
allele num: 14538
alternate allele: A
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.60-41C>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.60-384C>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.867C>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.885C>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.60-384C>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.60-384C>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.60-78C>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.51-384C>T
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1034
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5639
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2004
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4395
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

5-177659452-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659452
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659452
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 1798
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.323C>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.341C>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.50+41C>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.59+41C>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.59+41C>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.59+41C>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.59+41C>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.59+41C>T
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16534
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10037
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6374
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum

5-177659459-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659459
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659459
    reference: chr 5
allele count: 1
allele frequency: 5.868544600938967e-4
allele num: 1704
alternate allele: G
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.316G>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.59+34G>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.59+34G>C
  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.59+34G>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.334G>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.50+34G>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.59+34G>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.59+34G>C
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17116
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2215
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

5-177659460-GCGCCCCCCGCCGCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659460
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659446
    reference: chr 5
allele count: 4
allele frequency: 2.5e-3
allele num: 1600
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
  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
  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
  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
  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
  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
  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
  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
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 7.5e0
  variant carriers: 34
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17217
  bin: 2.5e0
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4819
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 1.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 2.25e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: GCGCCCCCCGCCGCC
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/5-177659463-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659463
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659463
    reference: chr 5
allele count: 398
allele frequency: 2.35781990521327e-1
allele num: 1688
alternate allele: A
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.59+30G>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.330G>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.312G>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.59+30G>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.59+30G>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.50+30G>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.59+30G>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.59+30G>T
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 7.5e0
  variant carriers: 426
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.25e1
  variant carriers: 232
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17192
  bin: 2.5e0
  variant carriers: 316
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 102
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.25e1
  variant carriers: 26
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 28
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 1.25e1
  variant carriers: 91
genotype quality: GenotypeQuality
  all individuals: 12494
  bin: 7.5e0
  variant carriers: 199
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 2.25e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 6.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.75e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 9.25e1
  variant carriers: 28
num of homozygotes: 47
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

5-177659463-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659463
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659463
    reference: chr 5
allele count: 1
allele frequency: 5.924170616113745e-4
allele num: 1688
alternate allele: G
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.330G>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.59+30G>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.59+30G>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.50+30G>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.312G>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.59+30G>C
  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.59+30G>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.59+30G>C
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17192
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 163
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4685
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-177659473-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659473
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659473
    reference: chr 5
allele count: 3
allele frequency: 2.491694352159468e-3
allele num: 1204
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.50+20G>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.59+20G>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.59+20G>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.302G>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.320G>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.59+20G>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.59+20G>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.59+20G>T
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22912
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

5-177659476-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659476
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659476
    reference: chr 5
allele count: 1
allele frequency: 9.242144177449168e-4
allele num: 1082
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.299C>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.59+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: ENST00000489262
  gene symbol: PHYKPL
  hgvsc: ENST00000489262.1:n.317C>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.59+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.59+17C>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.59+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: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.59+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: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.50+17C>T
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 25139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3064
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

5-177659476-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659476
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659477
    reference: chr 5
allele count: 4
allele frequency: 3.696857670979667e-3
allele num: 1082
alternate allele: GC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.59+16dupG
  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.298dupG
  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.59+16dupG
  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.59+16dupG
  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.59+16dupG
  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.50+16dupG
  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.316dupG
  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.59+16dupG
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2948
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25139
  bin: 2.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22121
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 1.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS

5-177659480-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659480
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659480
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 1168
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.59+13G>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.295G>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.59+13G>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.59+13G>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.59+13G>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.59+13G>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.313G>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.50+13G>A
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28375
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1935
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-177659481-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659481
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659481
    reference: chr 5
allele count: 2
allele frequency: 1.712328767123288e-3
allele num: 1168
alternate allele: A
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.312G>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.59+12G>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.294G>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.59+12G>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.59+12G>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.59+12G>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.59+12G>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.50+12G>T
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28857
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3417
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26784
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

5-177659482-C-CG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659482
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659483
    reference: chr 5
allele count: 1
allele frequency: 8.710801393728223e-4
allele num: 1148
alternate allele: CG
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.50+10dupC
  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.292dupC
  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.59+10dupC
  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.59+10dupC
  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.59+10dupC
  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.310dupC
  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.59+10dupC
  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.59+10dupC
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29337
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27288
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2746
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

5-177659482-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659482
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659482
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 1148
alternate allele: G
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.50+11G>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.293G>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.59+11G>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.59+11G>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.311G>C
  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.59+11G>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.59+11G>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.59+11G>C
  variant of: http://identifiers.org/hgnc/28249
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 29337
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 477
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: DP

5-177659494-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659494
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659494
    reference: chr 5
allele count: 1
allele frequency: 9.124087591240876e-4
allele num: 1096
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000175309
  ensembl transcript: ENST00000511716
  gene symbol: PHYKPL
  hgvsc: ENST00000511716.1:n.49A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.58A>G
  hgvsp: ENSP00000425425.1:p.Arg20Gly
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.58A>G
  hgvsp: ENSP00000310978.5:p.Ser20Gly
  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.299A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.58A>G
  hgvsp: ENSP00000321290.4:p.Ser20Gly
  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.281A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.58A>G
  hgvsp: ENSP00000423806.1:p.Ser20Gly
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.58A>G
  hgvsp: ENSP00000421810.1:p.Ser20Gly
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6869
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35582
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser20Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
reference allele: T
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

5-177659502-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659502
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659502
    reference: chr 5
allele count: 1
allele frequency: 8.771929824561404e-4
allele num: 1140
alternate allele: G
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.291G>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.273G>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.50G>C
  hgvsp: ENSP00000321290.4:p.Arg17Pro
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.50G>C
  hgvsp: ENSP00000423806.1:p.Arg17Pro
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.50G>C
  hgvsp: ENSP00000425425.1:p.Arg17Pro
  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.50G>C
  hgvsp: ENSP00000310978.5:p.Arg17Pro
  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.50G>C
  hgvsp: ENSP00000421810.1:p.Arg17Pro
  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.41G>C
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35996
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8446
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 494
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 658
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Arg17Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

5-177659503-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659503
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659503
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 1118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.49C>T
  hgvsp: ENSP00000423806.1:p.Arg17Trp
  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.40C>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.49C>T
  hgvsp: ENSP00000310978.5:p.Arg17Trp
  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.49C>T
  hgvsp: ENSP00000321290.4:p.Arg17Trp
  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.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: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.272C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.49C>T
  hgvsp: ENSP00000425425.1:p.Arg17Trp
  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.49C>T
  hgvsp: ENSP00000421810.1:p.Arg17Trp
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35964
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8706
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 493
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34864
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7519
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Arg17Trp
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

5-177659508-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659508
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659508
    reference: chr 5
allele count: 1
allele frequency: 8.680555555555555e-4
allele num: 1152
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.285G>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.44G>A
  hgvsp: ENSP00000421810.1:p.Arg15Lys
  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.44G>A
  hgvsp: ENSP00000321290.4:p.Arg15Lys
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.44G>A
  hgvsp: ENSP00000423806.1:p.Arg15Lys
  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.44G>A
  hgvsp: ENSP00000310978.5:p.Arg15Lys
  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.35G>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.267G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.44G>A
  hgvsp: ENSP00000425425.1:p.Arg15Lys
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35847
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg15Lys
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

5-177659513-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659513
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659513
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 1156
alternate allele: A
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.30C>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.39C>T
  hgvsp: ENST00000476170.2:c.39C>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: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.39C>T
  hgvsp: ENST00000474052.1:c.39C>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: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.39C>T
  hgvsp: ENST00000493197.1:c.39C>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.262C>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.39C>T
  hgvsp: ENST00000323594.4:c.39C>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.39C>T
  hgvsp: ENST00000308158.5:c.39C>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.280C>T
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10524
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35514
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34429
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 960
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala13Ala
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: DP

5-177659515-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659515
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659515
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 1148
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.37G>A
  hgvsp: ENSP00000425425.1:p.Ala13Thr
  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.37G>A
  hgvsp: ENSP00000321290.4:p.Ala13Thr
  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.37G>A
  hgvsp: ENSP00000310978.5:p.Ala13Thr
  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.37G>A
  hgvsp: ENSP00000421810.1:p.Ala13Thr
  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.260G>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.28G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.37G>A
  hgvsp: ENSP00000423806.1:p.Ala13Thr
  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.278G>A
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 10783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35391
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ala13Thr
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD

5-177659519-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659519
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659519
    reference: chr 5
allele count: 592
allele frequency: 3.182795698924731e-1
allele num: 1860
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.33G>C
  hgvsp: ENST00000476170.2:c.33G>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: ENST00000494126
  gene symbol: PHYKPL
  hgvsc: ENST00000494126.2:n.256G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.33G>C
  hgvsp: ENST00000474052.1:c.33G>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: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.33G>C
  hgvsp: ENST00000493197.1:c.33G>C(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.33G>C
  hgvsp: ENST00000308158.5:c.33G>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.33G>C
  hgvsp: ENST00000323594.4:c.33G>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.274G>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.24G>C
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.25e1
  variant carriers: 458
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32243
  bin: 2.5e0
  variant carriers: 731
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12532
  bin: 7.5e0
  variant carriers: 1883
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8648
  bin: 2.25e1
  variant carriers: 213
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 9.75e1
  variant carriers: 622
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 2.5e0
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 7.25e1
  variant carriers: 101
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 1.75e1
  variant carriers: 284
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.25e1
  variant carriers: 163
hgvs: p.Thr11Thr
num of homozygotes: 48
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: African
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/5-177659519-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659519
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659519
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 1860
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.33G>T
  hgvsp: ENST00000308158.5:c.33G>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.24G>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.33G>T
  hgvsp: ENST00000493197.1:c.33G>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.256G>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.33G>T
  hgvsp: ENST00000323594.4:c.33G>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: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.33G>T
  hgvsp: ENST00000474052.1:c.33G>T(p.%3D)
  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.33G>T
  hgvsp: ENST00000476170.2:c.33G>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.274G>T
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: synonymous
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12532
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8648
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr11Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD

5-177659542-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659542
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659542
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 1204
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.10G>C
  hgvsp: ENSP00000423806.1:p.Asp4His
  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.1G>C
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.10G>C
  hgvsp: ENSP00000425425.1:p.Asp4His
  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.10G>C
  hgvsp: ENSP00000310978.5:p.Asp4His
  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.10G>C
  hgvsp: ENSP00000421810.1:p.Asp4His
  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.251G>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.233G>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.10G>C
  hgvsp: ENSP00000321290.4:p.Asp4His
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34646
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11954
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asp4His
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

5-177659546-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659546
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659546
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 1072
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.6C>T
  hgvsp: ENST00000493197.1:c.6C>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: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.6C>T
  hgvsp: ENST00000474052.1:c.6C>T(p.%3D)
  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.6C>T
  hgvsp: ENST00000476170.2:c.6C>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.247C>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.229C>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.6C>T
  hgvsp: ENST00000323594.4:c.6C>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.6C>T
  hgvsp: ENST00000308158.5:c.6C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10416
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34920
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1527
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8064
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala2Ala
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

5-177659553-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659553
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659553
    reference: chr 5
allele count: 5
allele frequency: 5.252100840336135e-3
allele num: 952
alternate allele: C
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.222C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.-2C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.-2C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.-2C>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.240C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.-2C>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.-2C>G
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 485
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8556
  bin: 7.5e0
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 35471
  bin: 2.5e0
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 33403
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1366
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 3.25e1
  variant carriers: 4
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD

5-177659563-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659563
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659564
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 690
alternate allele: GT
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.-13dupA
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.-13dupA
  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.211dupA
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.-13dupA
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.-13dupA
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.-13dupA
  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.229dupA
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35913
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2664
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 814
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4710
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

5-177659564-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659564
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659564
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 704
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.229A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.-13A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.-13A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000421810
  ensembl transcript: ENST00000476170
  gene symbol: PHYKPL
  hgvsc: ENST00000476170.2:c.-13A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.-13A>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.211A>G
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.-13A>G
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6680
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35997
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33867
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

5-177659574-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659574
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659574
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 564
alternate allele: T
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.201G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.-23G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.-23G>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.219G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.-23G>A
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.-23G>A
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5386
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35489
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32775
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum

5-177659595-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659595
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659595
    reference: chr 5
allele count: 0
allele frequency: 0.0e0
allele num: 304
alternate allele: A
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.198A>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.-44A>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.-44A>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.-44A>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.-44A>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.180A>T
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: 5' UTR
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 3997
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32157
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8817
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: African
reference allele: T
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-177659602-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177659602
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177659602
    reference: chr 5
allele count: 1
allele frequency: 3.703703703703704e-3
allele num: 270
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000310978
  ensembl transcript: ENST00000308158
  gene symbol: PHYKPL
  hgvsc: ENST00000308158.5:c.-51C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000425425
  ensembl transcript: ENST00000493197
  gene symbol: PHYKPL
  hgvsc: ENST00000493197.1:c.-51C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000423806
  ensembl transcript: ENST00000474052
  gene symbol: PHYKPL
  hgvsc: ENST00000474052.1:c.-51C>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.173C>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.191C>T
  variant of: http://identifiers.org/hgnc/28249
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000175309
  ensembl protein: ENSP00000321290
  ensembl transcript: ENST00000323594
  gene symbol: PHYKPL
  hgvsc: ENST00000323594.4:c.-51C>T
  variant of: http://identifiers.org/hgnc/28249
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
  all individuals: 3854
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 18
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1165
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
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genotype quality: GenotypeQuality
  all individuals: 12355
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19975
  bin: 7.5e0
  variant carriers: 1
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

5-177665662-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177665662
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177665662
    reference: chr 5
allele count: 13
allele frequency: 1.076622387120284e-4
allele num: 120748
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000050767
  ensembl protein: ENSP00000375069
  ensembl transcript: ENST00000390654
  gene symbol: COL23A1
  hgvsc: ENST00000390654.3:c.*37G>C
  variant of: http://identifiers.org/hgnc/22990
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2034
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 728
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66726
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

5-177665665-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177665665
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177665665
    reference: chr 5
allele count: 1
allele frequency: 8.281573498964803e-6
allele num: 120750
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000050767
  ensembl protein: ENSP00000375069
  ensembl transcript: ENST00000390654
  gene symbol: COL23A1
  hgvsc: ENST00000390654.3:c.*34T>C
  variant of: http://identifiers.org/hgnc/22990
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6397
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 55701
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9800
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 896
  num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

5-177665666-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177665666
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177665666
    reference: chr 5
allele count: 2
allele frequency: 1.656314699792961e-5
allele num: 120750
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000050767
  ensembl protein: ENSP00000375069
  ensembl transcript: ENST00000390654
  gene symbol: COL23A1
  hgvsc: ENST00000390654.3:c.*33G>A
  variant of: http://identifiers.org/hgnc/22990
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype quality: GenotypeQuality
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  variant carriers: 2
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 896
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP

5-177665667-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177665667
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177665667
    reference: chr 5
allele count: 3
allele frequency: 2.484513201046808e-5
allele num: 120748
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000050767
  ensembl protein: ENSP00000375069
  ensembl transcript: ENST00000390654
  gene symbol: COL23A1
  hgvsc: ENST00000390654.3:c.*32C>T
  variant of: http://identifiers.org/hgnc/22990
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 591
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num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.020408163265306e-4
  allele num: 9800
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

5-177665672-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177665672
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177665672
    reference: chr 5
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000050767
  ensembl protein: ENSP00000375069
  ensembl transcript: ENST00000390654
  gene symbol: COL23A1
  hgvsc: ENST00000390654.3:c.*27A>G
  variant of: http://identifiers.org/hgnc/22990
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4154
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 823
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55701
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 896
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9800
  num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

5-177665681-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177665681
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177665681
    reference: chr 5
allele count: 1
allele frequency: 8.281710670156027e-6
allele num: 120748
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000050767
  ensembl protein: ENSP00000375069
  ensembl transcript: ENST00000390654
  gene symbol: COL23A1
  hgvsc: ENST00000390654.3:c.*18C>A
  variant of: http://identifiers.org/hgnc/22990
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2040
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2936
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55703
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9800
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8626
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: QD
site quality: InbreedingCoeff

5-177665690-G-GC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177665690
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177665691
    reference: chr 5
allele count: 2
allele frequency: 1.656397005234214e-5
allele num: 120744
alternate allele: GC
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000050767
  ensembl protein: ENSP00000375069
  ensembl transcript: ENST00000390654
  gene symbol: COL23A1
  hgvsc: ENST00000390654.3:c.*8dupG
  variant of: http://identifiers.org/hgnc/22990
canonical: true
consequence: 3' UTR
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.75e1
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genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55703
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 730
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 3
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8626
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9800
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ

5-177665695-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177665695
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177665695
    reference: chr 5
allele count: 2
allele frequency: 1.656369569178275e-5
allele num: 120746
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000050767
  ensembl protein: ENSP00000375069
  ensembl transcript: ENST00000390654
  gene symbol: COL23A1
  hgvsc: ENST00000390654.3:c.*4A>G
  variant of: http://identifiers.org/hgnc/22990
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 8.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 822
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genotype quality: GenotypeQuality
  all individuals: 992
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  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8626
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9802
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

5-177665710-GGAGGAA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177665710
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177665704
    reference: chr 5
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050767
  ensembl protein: ENSP00000375069
  ensembl transcript: ENST00000390654
  gene symbol: COL23A1
  hgvsc: ENST00000390654.3:c.1621-15_1621-10delTTCCTC
  variant of: http://identifiers.org/hgnc/22990
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6176
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 990
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 896
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 1.159285879897983e-4
  allele num: 8626
  num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: GGAGGAA
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP

5-177665714-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177665714
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177665714
    reference: chr 5
allele count: 1
allele frequency: 8.281847845891375e-6
allele num: 120746
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050767
  ensembl protein: ENSP00000375069
  ensembl transcript: ENST00000390654
  gene symbol: COL23A1
  hgvsc: ENST00000390654.3:c.1621-13C>T
  variant of: http://identifiers.org/hgnc/22990
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1465
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6398
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4152
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2296
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5759
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5719
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55702
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6614
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9802
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 66722
  num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP

5-177665721-CTG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177665721
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177665719
    reference: chr 5
allele count: 13
allele frequency: 1.076658053402239e-4
allele num: 120744
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050767
  ensembl protein: ENSP00000375069
  ensembl transcript: ENST00000390654
  gene symbol: COL23A1
  hgvsc: ENST00000390654.3:c.1621-22_1621-21delCA
  variant of: http://identifiers.org/hgnc/22990
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5757
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1461
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5369
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6402
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6173
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2917
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4592
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2297
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5718
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 635
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55702
  bin: 9.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 819
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8626
  num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 1.020199959192002e-4
  allele num: 9802
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16512
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: CTG
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

5-177665727-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 177665727
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 177665727
    reference: chr 5
allele count: 18
allele frequency: 1.490781997979162e-4
allele num: 120742
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000050767
  ensembl protein: ENSP00000375069
  ensembl transcript: ENST00000390654
  gene symbol: COL23A1
  hgvsc: ENST00000390654.3:c.1621-26C>T
  variant of: http://identifiers.org/hgnc/22990
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5367
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3741
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5716
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6172
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1455
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4153
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6406
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4591
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2299
  bin: 9.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5757
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2039
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2935
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 820
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55700
  bin: 9.75e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8626
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11574
  num of homozygotes: 0
population: African
  type: Population
  allele count: 2
  allele frequency: 2.040399918384003e-4
  allele num: 9802
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G

GenotypeQuality
all individuals: 1205
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 911
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 113
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 889
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 5005
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 131
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1049
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 191
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 363
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 12
allele frequency: 7.067137809187279e-3
allele num: 1698
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2854
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 380
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18678
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1812
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2722
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.77e-2

FS
type: SiteQuality
SIO_000300: 3.028e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.129999999999999e-1

DP
type: SiteQuality
SIO_000300: 6.11892e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

QD
type: SiteQuality
SIO_000300: 1.415e1

GenotypeQuality
all individuals: 113
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17469
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1290
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 5111
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 852
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2185
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 5.25e1
variant carriers: 1

GenotypeQuality
all individuals: 364
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1161
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 835
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1806
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1672
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 2.577319587628866e-3
allele num: 2716
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 378
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 18582
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.72e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.09e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 1.269e1

FS
type: SiteQuality
SIO_000300: 5.27e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

DP
type: SiteQuality
SIO_000300: 6.11171e5

GenotypeQuality
all individuals: 223
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 937
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22057
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4847
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 9.75e1
variant carriers: 16

GenotypeQuality
all individuals: 196
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 849
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2600
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15760
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2342
num of homozygotes: 0

South Asian
type: Population
allele count: 15
allele frequency: 1.520064856100527e-3
allele num: 9868
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1464
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.226e0

QD
type: SiteQuality
SIO_000300: 1.574e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.49e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

FS
type: SiteQuality
SIO_000300: 1.204e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.71734e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.4e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 562
bin: 3.25e1
variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1264
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 2.538071065989848e-4
allele num: 15760
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2600
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2342
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1464
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 3.040129712201054e-4
allele num: 9868
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.49e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.63e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.226e0

VQSLOD
type: SiteQuality
SIO_000300: 2.33e0

FS
type: SiteQuality
SIO_000300: 1.204e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.71734e5

QD
type: SiteQuality
SIO_000300: 1.574e1

GenotypeQuality
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variant carriers: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1334
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1072
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14436
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 5.49286e5

MQRankSum
type: SiteQuality
SIO_000300: 1.65e0

QD
type: SiteQuality
SIO_000300: 1.369e1

VQSLOD
type: SiteQuality
SIO_000300: -1.484e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.77e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.29e-1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 9598
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2432
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1318
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 4.587155963302753e-4
allele num: 2180
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 2.116551432199802e-4
allele num: 14174
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 1040
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

FS
type: SiteQuality
SIO_000300: 5.97e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.82e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

DP
type: SiteQuality
SIO_000300: 5.4477e5

BaseQRankSum
type: SiteQuality
SIO_000300: -2.219e0

QD
type: SiteQuality
SIO_000300: 1.064e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 2078
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2370
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 954
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1234
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13358
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.11e-2

QD
type: SiteQuality
SIO_000300: 5.67e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 5.30111e5

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.057e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.54e0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2068
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1674
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8902
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 4.76095e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.537e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.06e-1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 784
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 552
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.167133520074697e-4
allele num: 8568
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8656
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1926
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-2

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQ
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ClippingRankSum
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1376
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8048
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 1888
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 0.0e0
allele num: 256
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.049999999999999e-2

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1866
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 502
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Other
type: Population
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allele num: 256
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South Asian
type: Population
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 7812
num of homozygotes: 0

East Asian
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num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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QD
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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MQ
type: SiteQuality
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Other
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South Asian
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allele frequency: 6.081245439065921e-4
allele num: 8222
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 462
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European (Finnish)
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allele frequency: 0.0e0
allele num: 1790
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7134
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.61e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.45e-2

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 1.283e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.0e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.497e0

DP
type: SiteQuality
SIO_000300: 4.00191e5

FS
type: SiteQuality
SIO_000300: 3.721e0

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

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 558
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2920
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4073
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1035
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27781
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2275
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1156
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1676
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6168
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7964
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.516e1

DP
type: SiteQuality
SIO_000300: 3.64074e5

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.8e-2

QD
type: SiteQuality
SIO_000300: 1.924e1

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 456
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28514
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3175
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1231
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1730
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 559
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1037
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6184
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 2.512562814070352e-4
allele num: 7960
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 408
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 596
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 220
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.770000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.954e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.72e-1

FS
type: SiteQuality
SIO_000300: 2.231e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.1e-1

QD
type: SiteQuality
SIO_000300: 1.09e1

VQSLOD
type: SiteQuality
SIO_000300: -2.321e0

DP
type: SiteQuality
SIO_000300: 3.63974e5

GenotypeQuality
all individuals: 213
bin: 1.75e1
variant carriers: 6

GenotypeQuality
all individuals: 290
bin: 1.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1077
bin: 9.75e1
variant carriers: 61

GenotypeQuality
all individuals: 1981
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 573
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20739
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1220
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 175
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 6

African
type: Population
allele count: 57
allele frequency: 5.599214145383104e-2
allele num: 1018
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1590
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 344
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5616
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.3e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.42e0

DP
type: SiteQuality
SIO_000300: 3.24009e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.325e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.78e-1

GenotypeQuality
all individuals: 158
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 573
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3962
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1218
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5524
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 964
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.301405517959396e-4
allele num: 7684
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1556
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 2.367e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.57e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

DP
type: SiteQuality
SIO_000300: 3.0201e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.87e-1

QD
type: SiteQuality
SIO_000300: 1.256e1

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3953
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 572
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5520
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.301405517959396e-4
allele num: 7684
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.168e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 7.55e0

VQSLOD
type: SiteQuality
SIO_000300: -1.372e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.98e-1

DP
type: SiteQuality
SIO_000300: 2.99986e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.140000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 571
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14903
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3955
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 548
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 199
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 950
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5516
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.97978e5

QD
type: SiteQuality
SIO_000300: 1.023e1

VQSLOD
type: SiteQuality
SIO_000300: -2.174e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.06e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 547
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1715
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 14726
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 1217
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3957
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 130
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1049
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 199
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 318
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1542
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 208
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 4.210526315789474e-3
allele num: 950
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 524
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.9716e5

FS
type: SiteQuality
SIO_000300: 4.437e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.93e-2

QD
type: SiteQuality
SIO_000300: 1.208e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.21e0

GenotypeQuality
all individuals: 9605
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 541
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1206
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3877
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7668
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 3.311258278145695e-3
allele num: 302
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 934
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5434
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.498e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.080000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.14e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.12e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.0e-3

FS
type: SiteQuality
SIO_000300: 8.83e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.79451e5

VQSLOD
type: SiteQuality
SIO_000300: -2.152e0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 734
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1058
bin: 9.75e1
variant carriers: 15

GenotypeQuality
all individuals: 3895
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 566
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 373
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 5.25e1
variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 930
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.840264998159735e-4
allele num: 5434
num of homozygotes: 0

East Asian
type: Population
allele count: 7
allele frequency: 1.377952755905512e-2
allele num: 508
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 4.950495049504951e-3
allele num: 202
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 7.822685788787483e-4
allele num: 7670
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.09e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.26e-1

FS
type: SiteQuality
SIO_000300: 1.779e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.747e-1

DP
type: SiteQuality
SIO_000300: 2.811e5

MQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

QD
type: SiteQuality
SIO_000300: 1.131e1

GenotypeQuality
all individuals: 112
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1263
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3882
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 377
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 716
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 172
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9334
bin: 7.5e0
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 930
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 5.215123859191656e-4
allele num: 7670
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5428
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 200
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 302
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.452e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.16e-1

FS
type: SiteQuality
SIO_000300: 9.300000000000001e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.98e-2

MQ
type: SiteQuality
SIO_000300: 5.975e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.01e-1

QD
type: SiteQuality
SIO_000300: 1.184e1

DP
type: SiteQuality
SIO_000300: 2.78309e5

GenotypeQuality
all individuals: 649
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 375
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 122
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 554
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3342
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 527
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 916
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 7.861635220125787e-4
allele num: 1272
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5326
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.67e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.35e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.12e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

VQSLOD
type: SiteQuality
SIO_000300: 3.86e0

DP
type: SiteQuality
SIO_000300: 2.56798e5

GenotypeQuality
all individuals: 98
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1117
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 646
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4900
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 547
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3243
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5314
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.304461257500652e-4
allele num: 7666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 916
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1220
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.139e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.45e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.29e0

MQ
type: SiteQuality
SIO_000300: 5.683e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.56e-1

DP
type: SiteQuality
SIO_000300: 2.55131e5

ClippingRankSum
type: SiteQuality
SIO_000300: -2.139e0

QD
type: SiteQuality
SIO_000300: 2.163e1

GenotypeQuality
all individuals: 623
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 378
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 171
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 133
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1052
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 198
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 111
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 546
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 490
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 186
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1200
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.762227238525207e-4
allele num: 5316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 916
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 296
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.211e1

VQSLOD
type: SiteQuality
SIO_000300: 6.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.42e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.33e-1

FS
type: SiteQuality
SIO_000300: 1.027e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

DP
type: SiteQuality
SIO_000300: 2.54291e5

GenotypeQuality
all individuals: 143
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4420
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 214
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1068
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2673
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1082
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5270
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7666
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 178
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.82e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.98e-1

DP
type: SiteQuality
SIO_000300: 2.52063e5

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.706e0

MQRankSum
type: SiteQuality
SIO_000300: 4.8e-1

QD
type: SiteQuality
SIO_000300: 4.42e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.98e-1

GenotypeQuality
all individuals: 187
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 226
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4344
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 544
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1062
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 916
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5268
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.304801670146138e-4
allele num: 7664
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.77e-2

MQ
type: SiteQuality
SIO_000300: 5.72e1

QD
type: SiteQuality
SIO_000300: 1.155e1

VQSLOD
type: SiteQuality
SIO_000300: -9.019e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.52455e5

ClippingRankSum
type: SiteQuality
SIO_000300: 5.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.451e0

GenotypeQuality
all individuals: 472
bin: 1.75e1
variant carriers: 472

GenotypeQuality
all individuals: 1234
bin: 7.5e0
variant carriers: 1212

GenotypeQuality
all individuals: 88
bin: 4.25e1
variant carriers: 88

GenotypeQuality
all individuals: 122
bin: 2.75e1
variant carriers: 122

GenotypeQuality
all individuals: 169
bin: 7.25e1
variant carriers: 169

GenotypeQuality
all individuals: 453
bin: 1.25e1
variant carriers: 453

GenotypeQuality
all individuals: 469
bin: 9.25e1
variant carriers: 469

GenotypeQuality
all individuals: 149
bin: 4.75e1
variant carriers: 149

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 108

GenotypeQuality
all individuals: 219
bin: 6.25e1
variant carriers: 216

GenotypeQuality
all individuals: 426
bin: 8.25e1
variant carriers: 426

GenotypeQuality
all individuals: 246
bin: 8.75e1
variant carriers: 246

African
type: Population
allele count: 883
allele frequency: 9.535637149028078e-1
allele num: 926
num of homozygotes: 421

South Asian
type: Population
allele count: 7607
allele frequency: 9.923036785807462e-1
allele num: 7666
num of homozygotes: 3776

East Asian
type: Population
allele count: 477
allele frequency: 9.774590163934426e-1
allele num: 488
num of homozygotes: 233

European (Finnish)
type: Population
allele count: 1054
allele frequency: 1.0e0
allele num: 1054
num of homozygotes: 527

Latino
type: Population
allele count: 289
allele frequency: 9.897260273972602e-1
allele num: 292
num of homozygotes: 143

Other
type: Population
allele count: 177
allele frequency: 9.833333333333333e-1
allele num: 180
num of homozygotes: 87

European (Non-Finnish)
type: Population
allele count: 5269
allele frequency: 9.926525998492841e-1
allele num: 5308
num of homozygotes: 2615

DP
type: SiteQuality
SIO_000300: 3.07821e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.7e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.502e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.8e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.04e-1

QD
type: SiteQuality
SIO_000300: 3.448e1

GenotypeQuality
all individuals: 328
bin: 3.25e1
variant carriers: 56

GenotypeQuality
all individuals: 277
bin: 2.75e1
variant carriers: 66

GenotypeQuality
all individuals: 202
bin: 1.25e1
variant carriers: 92

GenotypeQuality
all individuals: 191
bin: 7.75e1
variant carriers: 65

GenotypeQuality
all individuals: 129
bin: 9.25e1
variant carriers: 76

GenotypeQuality
all individuals: 708
bin: 2.25e1
variant carriers: 77

GenotypeQuality
all individuals: 142
bin: 8.25e1
variant carriers: 57

GenotypeQuality
all individuals: 1647
bin: 6.25e1
variant carriers: 69

GenotypeQuality
all individuals: 78
bin: 4.75e1
variant carriers: 38

GenotypeQuality
all individuals: 70
bin: 5.25e1
variant carriers: 45

GenotypeQuality
all individuals: 437
bin: 6.75e1
variant carriers: 54

GenotypeQuality
all individuals: 3663
bin: 9.75e1
variant carriers: 3483

Latino
type: Population
allele count: 93
allele frequency: 3.206896551724138e-1
allele num: 290
num of homozygotes: 14

Other
type: Population
allele count: 54
allele frequency: 3.214285714285715e-1
allele num: 168
num of homozygotes: 13

European (Finnish)
type: Population
allele count: 302
allele frequency: 4.194444444444445e-1
allele num: 720
num of homozygotes: 49

South Asian
type: Population
allele count: 2317
allele frequency: 3.061575052854122e-1
allele num: 7568
num of homozygotes: 361

African
type: Population
allele count: 153
allele frequency: 1.666666666666667e-1
allele num: 918
num of homozygotes: 10

European (Non-Finnish)
type: Population
allele count: 1424
allele frequency: 2.799842705465985e-1
allele num: 5086
num of homozygotes: 204

East Asian
type: Population
allele count: 217
allele frequency: 4.520833333333333e-1
allele num: 480
num of homozygotes: 46

MQRankSum
type: SiteQuality
SIO_000300: 6.6e-2

DP
type: SiteQuality
SIO_000300: 2.30232e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.119e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.17e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.77e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.012e1

GenotypeQuality
all individuals: 2201
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4305
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 929
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 682
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 204
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 486
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4962
num of homozygotes: 0

InbreedingCoeff
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SIO_000300: -4.01e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

VQSLOD
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SIO_000300: -1.792e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.25e0

QD
type: SiteQuality
SIO_000300: 1.397e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.55e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.29e0

DP
type: SiteQuality
SIO_000300: 1.90611e5

GenotypeQuality
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variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7480
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4962
num of homozygotes: 0

African
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: 476
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.90583e5

BaseQRankSum
type: SiteQuality
SIO_000300: 8.04e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.04e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.347345728914039e-4
allele num: 7422
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4880
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 410
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.83335e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.444e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.49e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.571e0

MQRankSum
type: SiteQuality
SIO_000300: -1.823e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.221e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

QD
type: SiteQuality
SIO_000300: 1.216e1

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1348
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.026e0

QD
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SIO_000300: 7.5e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.042e-1

DP
type: SiteQuality
SIO_000300: 6.1403e4

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.499e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 280
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.25e-2
allele num: 80
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1288
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.0e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.54e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.42e-1

DP
type: SiteQuality
SIO_000300: 6.4299e4

FS
type: SiteQuality
SIO_000300: 1.342e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 2.242e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.76e-1

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
all individuals: 35
bin: 9.75e1
variant carriers: 33

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 7.407407407407408e-3
allele num: 270
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 8.347245409015025e-4
allele num: 1198
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 8.333333333333333e-2
allele num: 12
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

DP
type: SiteQuality
SIO_000300: 6.5238e4

FS
type: SiteQuality
SIO_000300: 2.446e0

QD
type: SiteQuality
SIO_000300: 4.6e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.130000000000001e-2

MQ
type: SiteQuality
SIO_000300: 4.918e1

VQSLOD
type: SiteQuality
SIO_000300: 9.05e-1

GenotypeQuality
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variant carriers: 18

GenotypeQuality
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variant carriers: 28

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 28

GenotypeQuality
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GenotypeQuality
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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: 21

African
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allele count: 63
allele frequency: 6.057692307692307e-1
allele num: 104
num of homozygotes: 14

East Asian
type: Population
allele count: 6
allele frequency: 2.727272727272727e-1
allele num: 22
num of homozygotes: 1

Latino
type: Population
allele count: 7
allele frequency: 3.5e-1
allele num: 20
num of homozygotes: 1

Other
type: Population
allele count: 3
allele frequency: 2.142857142857143e-1
allele num: 14
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 57
allele frequency: 2.007042253521127e-1
allele num: 284
num of homozygotes: 6

South Asian
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allele count: 262
allele frequency: 2.106109324758842e-1
allele num: 1244
num of homozygotes: 25

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.458e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.944e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

FS
type: SiteQuality
SIO_000300: 1.742e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

GenotypeQuality
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variant carriers: 0

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

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

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

Latino
type: Population
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allele frequency: 0.0e0
allele num: 20
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South Asian
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allele frequency: 0.0e0
allele num: 1244
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 104
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 22
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.52112676056338e-3
allele num: 284
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.89e-1

DP
type: SiteQuality
SIO_000300: 6.8968e4

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.944e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.6e-1

FS
type: SiteQuality
SIO_000300: 1.742e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.86e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 599
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variant carriers: 2

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 18
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 224
num of homozygotes: 0

African
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allele frequency: 3.75e-2
allele num: 80
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Other
type: Population
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allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 860
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VQSLOD
type: SiteQuality
SIO_000300: 1.33e0

FS
type: SiteQuality
SIO_000300: 6.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 7.7637e4

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.22e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 194
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.288659793814433e-3
allele num: 776
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

FS
type: SiteQuality
SIO_000300: 5.819e0

MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.630000000000001e-2

DP
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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South Asian
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Latino
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European (Finnish)
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European (Non-Finnish)
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ClippingRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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VQSLOD
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QD
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InbreedingCoeff
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DP
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BaseQRankSum
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FS
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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East Asian
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South Asian
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: NaN
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African
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Other
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DP
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InbreedingCoeff
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MQ
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QD
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FS
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MQRankSum
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BaseQRankSum
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 4.716981132075472e-3
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InbreedingCoeff
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FS
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DP
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VQSLOD
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ReadPosRankSum
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MQ
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BaseQRankSum
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MQRankSum
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ClippingRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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East Asian
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Other
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European (Finnish)
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Latino
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South Asian
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European (Non-Finnish)
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BaseQRankSum
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DP
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MQRankSum
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InbreedingCoeff
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FS
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VQSLOD
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ClippingRankSum
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ReadPosRankSum
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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East Asian
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Latino
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European (Finnish)
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South Asian
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Other
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FS
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ClippingRankSum
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ReadPosRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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MQ
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MQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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African
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South Asian
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Other
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European (Finnish)
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East Asian
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Latino
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ReadPosRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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VQSLOD
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DP
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FS
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ClippingRankSum
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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European (Non-Finnish)
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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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South Asian
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DP
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ClippingRankSum
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FS
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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VQSLOD
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MQ
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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European (Finnish)
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European (Non-Finnish)
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Latino
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Other
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South Asian
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DP
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ReadPosRankSum
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InbreedingCoeff
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BaseQRankSum
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FS
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MQRankSum
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MQ
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VQSLOD
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QD
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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East Asian
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European (Non-Finnish)
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African
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Other
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VQSLOD
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MQRankSum
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ClippingRankSum
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FS
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 150
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 548
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 342
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.14e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.66e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.231e0

QD
type: SiteQuality
SIO_000300: 1.091e1

MQ
type: SiteQuality
SIO_000300: 5.203e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.58681e5

GenotypeQuality
all individuals: 34267
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 516
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 360
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.08e-2

DP
type: SiteQuality
SIO_000300: 1.60442e5

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.63e1

VQSLOD
type: SiteQuality
SIO_000300: 3.1e-1

GenotypeQuality
all individuals: 29758
bin: 7.5e0
variant carriers: 300

GenotypeQuality
all individuals: 652
bin: 1.25e1
variant carriers: 246

GenotypeQuality
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bin: 7.75e1
variant carriers: 64

GenotypeQuality
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bin: 5.75e1
variant carriers: 149

GenotypeQuality
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bin: 6.25e1
variant carriers: 184

GenotypeQuality
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bin: 2.75e1
variant carriers: 223

GenotypeQuality
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bin: 4.25e1
variant carriers: 29

GenotypeQuality
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bin: 4.75e1
variant carriers: 48

GenotypeQuality
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bin: 9.25e1
variant carriers: 91

GenotypeQuality
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bin: 5.25e1
variant carriers: 77

GenotypeQuality
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bin: 3.75e1
variant carriers: 39

GenotypeQuality
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bin: 8.25e1
variant carriers: 63

GenotypeQuality
all individuals: 81
bin: 8.75e1
variant carriers: 81

GenotypeQuality
all individuals: 187
bin: 6.75e1
variant carriers: 181

European (Non-Finnish)
type: Population
allele count: 182
allele frequency: 2.740963855421687e-1
allele num: 664
num of homozygotes: 8

South Asian
type: Population
allele count: 145
allele frequency: 2.543859649122807e-1
allele num: 570
num of homozygotes: 10

Other
type: Population
allele count: 4
allele frequency: 3.333333333333333e-1
allele num: 12
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 2.5e-1
allele num: 8
num of homozygotes: 0

East Asian
type: Population
allele count: 58
allele frequency: 3.766233766233766e-1
allele num: 154
num of homozygotes: 7

African
type: Population
allele count: 177
allele frequency: 4.707446808510639e-1
allele num: 376
num of homozygotes: 22

Latino
type: Population
allele count: 24
allele frequency: 3.157894736842105e-1
allele num: 76
num of homozygotes: 1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 1.756e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.641e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 5.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.631e1

GenotypeQuality
all individuals: 244
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 622
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 29758
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1110
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variant carriers: 1

GenotypeQuality
all individuals: 63
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 76
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 376
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 664
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.88e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 5.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.641e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 1.756e5

QD
type: SiteQuality
SIO_000300: 1.631e1

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

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 10236
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variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 1419
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 33503
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GenotypeQuality
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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: 7
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 244
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 588
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.93e-2

DP
type: SiteQuality
SIO_000300: 1.71324e5

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 7.58e0

VQSLOD
type: SiteQuality
SIO_000300: -2.533e0

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 33061
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 212
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 124
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 532
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.309999999999999e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.3e0

VQSLOD
type: SiteQuality
SIO_000300: -2.313e0

QD
type: SiteQuality
SIO_000300: 8.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.754e0

DP
type: SiteQuality
SIO_000300: 1.61962e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 5

GenotypeQuality
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variant carriers: 2

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 72
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
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African
type: Population
allele count: 1
allele frequency: 4.854368932038835e-3
allele num: 206
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 8.368200836820083e-3
allele num: 478
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 102
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 82
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.52e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 1.605e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

DP
type: SiteQuality
SIO_000300: 1.50029e5

MQ
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.157e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -7.2e-1

QD
type: SiteQuality
SIO_000300: 1.784e1

VQSLOD
type: SiteQuality
SIO_000300: 1.87e0

MQ
type: SiteQuality
SIO_000300: 6.178e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.7e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.36071e5

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 338
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 68
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 180
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -7.27e-1

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.35982e5

VQSLOD
type: SiteQuality
SIO_000300: -2.009e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.01e-2

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
all individuals: 0
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GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 260
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.496e0

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

DP
type: SiteQuality
SIO_000300: 1.2445e5

QD
type: SiteQuality
SIO_000300: 5.93e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.56e-1

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

GenotypeQuality
all individuals: 23937
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 3.25e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 35
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 898
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1721
bin: 1.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 168
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.00855e5

FS
type: SiteQuality
SIO_000300: 7.422e0

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.893e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

QD
type: SiteQuality
SIO_000300: 1.148e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.051e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

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

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

GenotypeQuality
all individuals: 1
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variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 6.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 484
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
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South Asian
type: Population
allele count: 1
allele frequency: 7.142857142857142e-2
allele num: 14
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 80
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.131e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.221e0

VQSLOD
type: SiteQuality
SIO_000300: 2.42e-1

FS
type: SiteQuality
SIO_000300: 1.395e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

DP
type: SiteQuality
SIO_000300: 1.01635e5

QD
type: SiteQuality
SIO_000300: 1.113e1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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: 13
allele frequency: 1.326530612244898e-3
allele num: 9800
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.98e1

VQSLOD
type: SiteQuality
SIO_000300: 4.01e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.072781e6

MQRankSum
type: SiteQuality
SIO_000300: -7.5e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.03e0

QD
type: SiteQuality
SIO_000300: 1.14e1

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8626
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.954e1

FS
type: SiteQuality
SIO_000300: 4.909e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.406e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.02e-2

QD
type: SiteQuality
SIO_000300: 1.217e1

VQSLOD
type: SiteQuality
SIO_000300: 3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.06e0

DP
type: SiteQuality
SIO_000300: 4.072859e6

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9800
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 8.61e-1

FS
type: SiteQuality
SIO_000300: 3.392e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.94e0

MQRankSum
type: SiteQuality
SIO_000300: 5.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.68e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

QD
type: SiteQuality
SIO_000300: 1.101e1

DP
type: SiteQuality
SIO_000300: 4.072957e6

South Asian
type: Population
allele count: 2
allele frequency: 1.211240310077519e-4
allele num: 16512
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e-1

MQ
type: SiteQuality
SIO_000300: 5.92e1

DP
type: SiteQuality
SIO_000300: 4.073076e6

FS
type: SiteQuality
SIO_000300: 1.376e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.43e-1

QD
type: SiteQuality
SIO_000300: 1.235e1

East Asian
type: Population
allele count: 1
allele frequency: 1.159285879897983e-4
allele num: 8626
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 7.22e-1

QD
type: SiteQuality
SIO_000300: 1.523e1

DP
type: SiteQuality
SIO_000300: 4.073078e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.12e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.86e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.74e-1

FS
type: SiteQuality
SIO_000300: 9.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66726
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.116071428571429e-3
allele num: 896
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.088e0

MQ
type: SiteQuality
SIO_000300: 5.897e1

VQSLOD
type: SiteQuality
SIO_000300: -8.602e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.073234e6

QD
type: SiteQuality
SIO_000300: 5.24e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 1.351e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.133e0

FS
type: SiteQuality
SIO_000300: 1.129e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.697e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.99e-1

DP
type: SiteQuality
SIO_000300: 4.073351e6

MQRankSum
type: SiteQuality
SIO_000300: 1.54e0

MQ
type: SiteQuality
SIO_000300: 5.954e1

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997512064986062e-5
allele num: 66722
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.161e1

FS
type: SiteQuality
SIO_000300: 7.58e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.0e0

DP
type: SiteQuality
SIO_000300: 4.073251e6

VQSLOD
type: SiteQuality
SIO_000300: -2.295e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

MQ
type: SiteQuality
SIO_000300: 5.857e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.172e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 2.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 8.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.0e0

DP
type: SiteQuality
SIO_000300: 4.073053e6

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.204e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.41e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.625e0

FS
type: SiteQuality
SIO_000300: 2.315e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 1.142e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.02e0

DP
type: SiteQuality
SIO_000300: 4.072788e6

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
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: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 1.798561151079137e-4
allele num: 66720
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.35e-1

FS
type: SiteQuality
SIO_000300: 1.144e0

QD
type: SiteQuality
SIO_000300: 1.581e1

MQ
type: SiteQuality
SIO_000300: 5.935e1

VQSLOD
type: SiteQuality
SIO_000300: 3.92e0

DP
type: SiteQuality
SIO_000300: 4.072979e6

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.18e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.44e-1

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.398153421865164e-4
allele num: 66718
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: 896
num of homozygotes: 0

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